ContextualAlleleName

CG:0020
Descended from DomainEntity

Scope and Usage

Attributes

Name Type Cardinality Description IRI Defined in
name string 0..1 CG:0006 ContextualAlleleName
preferred boolean 1..1 CG:0007 ContextualAlleleName
nameType @id 1..1 CG:0015 ContextualAlleleName
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity

Instances

ID label description name preferred nameType

CGEX:CtxNm9001

NM_031844.2(HNRNPU):c.2304_2305del (p.Gly769Glufs*83)

true

CGEX:CtxNm9002

NM_000059.3(BRCA2):c.7762_7764delinsTT

true

CGEX:CtxNm9003

NM_133437.4(TTN):c.10670dupG

true

CGEX:CtxNm9004

LRG_391t2:c.10303+2691dupG

true

CGEX:CtxNm9005

NM_002834.3(PTPN11):c.855T>G (p.Phe285Leu)

true

CGEX:CtxNm9006

NM_002834.3(PTPN11):c.853T>C (p.Phe285Leu)

true

CGEX:CtxNm9007

NP_002825.3:p.Phe285Leu

true

CGEX:CtxNm9008

NM_001369.2(DNAH5):c.6249G>C (p.Met2083Ile)

true

CGEX:CtxNm9009

NM_001369.2(DNAH5):c.6249G>A (p.Met2083Ile)

true

CGEX:CtxNm9010

NP_001360.1:p.Met2083Ile

true

CGEX:CtxNm9011

NC_000011.9:g.533883G>A

true

CGEX:CtxNm9012

NM_176795.4(HRAS):c.173C>T (p.Thr58Ile)

true

CGEX:CtxNm9013

NC_000012.12:g.25227351G>A

true

CGEX:CtxNm9014

NM_004985.4(KRAS):c.173C>T (p.Thr58Ile)

true

CGEX:CtxNm9015

NP_005334.1:p.Thr58Ile

true

CGEX:CtxNm9016

NP_004976.2:p.Thr58Ile

true

CGEX:CtxNm9017

NM_000257.3(MYH7):c.5740G>A (p.Glu1914Lys)

true

CGEX:CtxNm9018

NM_001927.3(DES):c.1216C>T (p.Arg406Trp)

true

CGEX:CtxNm9019

NM_000833.4 (GRIN2A):c.4375A>G

true

CGEX:CtxNm9020

NM_001001431.2(TNNT2):c.391C>T

true

CGEX:CtxNm9021

NP_001001431.1:p.Arg131Trp

true

CGEX:CtxNm9022

NM_003119.2 (SPG7):c.1529C>T

true

CGEX:CtxNm9023

NM_004333.4(BRAF):c.1787G>T

true

CGEX:CtxNm9024

NP_004324.2:p.Gly596Val

true

CGEX:CtxNm9025

NM_000441.1(SLC26A4):c.1003T>C

true

CGEX:CtxNm9026

NM_000540.2 (RYR1):c.1840C>T

true

CGEX:CtxNm9027

NM_006208.2(ENPP1):c.517A>C

true

CGEX:CtxNm9028

NM_005228.3(EGFR):c.2369C>T

true

CGEX:CtxNm9029

NM_004333.4(BRAF):c.1789C>G

true

CGEX:CtxNm9030

NM_000169.2(GLA):c.902G>C

true

CGEX:CtxNm9031

NM_000169.2(GLA): c.886A>G

true

CGEX:CtxNm9032

NM_000169.2(GLA):c.890C>T

true

CGEX:CtxNm9033

NM_000169.2(GLA):c.899T>C

true

CGEX:CtxNm9034

NM_000169.2(GLA):c.902G>A

true

CGEX:CtxNm9035

NM_000257.2(MYH7):c.5135G>A

true

CGEX:CtxNm9036

NC_000001.10:g.45800156C>T

true

CGEX:CtxNm9037

NM_001128425.1(MUTYH):c.64G>A (p.Val22Met)

true

CGEX:CtxNm9038

NM_001399.4(EDA): c.676C>T

true

CGEX:CtxNm9039

NM_001369.2(DNAH5):c.7468_7488del

true

CGEX:CtxNm9040

NM_001369.2(DNAH5):c.9449delG

true

CGEX:CtxNm9041

NM_133261.2(GIPC3):c.298G>A

true

CGEX:CtxNm9042

NM_133261.2(GIPC3):c.411+1G>A

true

CGEX:CtxNm9043

NM_000391.3(TTP1):c.1678_1679delCT

true

CGEX:CtxNm9044

NP_001360.1:p.Trp2490_Leu2496del

true

CGEX:CtxNm9045

NM_015560.2(OPA1):c.113_130del18

true

CGEX:CtxNm9046

NP_056375.2:p.Arg38_Ser43del

true

CGEX:CtxNm9047

NM_003924.3(PHOX2B):c.753_767dup

true

CGEX:CtxNm9048

NP_003915.2:p.Ala260_Gly261insAlaAlaAlaAlaAla

true

CGEX:CtxNm9049

NM_000363.4(TNNI3):c.485G>A

true

CGEX:CtxNm9050

NP_000354.4:p.Arg162Gln

true

CGEX:CtxNm9051

NM_000363.4(TNNI3):c.485G>C

true

CGEX:CtxNm9052

NP_000354.4:p.Arg162Pro

true

CGEX:CtxNm9053

NM_000363.4(TNNI3):c.484C>T

true

CGEX:CtxNm9054

NP_000354.4:p.Arg162Trp

true

CGEX:CtxNm9055

NM_000531.5(OTC):c.118C>T

true

CGEX:CtxNm9056

NP_000522.3:p.Arg40Cys

true

CGEX:CtxNm9057

NM_000531.5(OTC):c.119G>A

true

CGEX:CtxNm9058

NP_000522.3:p.Arg40His

true

CGEX:CtxNm9059

NM_007294.3(BRCA1):c.5290C>A

true

CGEX:CtxNm9060

NP_009225.1:p.Leu1764Ile

true

CGEX:CtxNm9061

NM_007294.3(BRCA1):c.5291T>C

true

CGEX:CtxNm9062

NP_009225.1:p.Leu1764Pro

true

CGEX:CtxNm9063

NM_144997.5(FLCN):c.1285dupC

true

CGEX:CtxNm9064

NM_002755.3(MAP2K1):c.158T>C

true

CGEX:CtxNm9065

NM_004333.4(BRAF):c.1741A>G

true

CGEX:CtxNm9066

NM_206933.2(USH2A):c.1000C>G (p.Arg334Gly)

true

CGEX:CtxNm9067

NM_000256.3(MYBPC3)c.1351+1G>A

true

CGEX:CtxNm9068

NM_000059.3(BRCA2):c.1832C>G

true

CGEX:CtxNm9069

NM_001001430.2(TNNT2):c.629_631delAGA

true

CGEX:CtxNm9070

NM_000257.3(MYH7):c.5401G>A

true

CGEX:CtxNm9071

NM_005228.3(EGFR):c.2369C>T

true

CGEX:CtxNm9072

NM_003119.3(SPG7):c.1529C>T

true

CGEX:CtxNm9073

ENST00000268704.6:c.1529C>T

true

CGEX:CtxNm9074

ENST00000566221.5:c.127C>T

true

CGEX:CtxNm9075

NM_000363.4(TNNI3):c.592C>G

true

CGEX:CtxNm9076

NM_001114753.1(ENG):c.818C>T

true

CGEX:CtxNm9077

NM_000257.2(MYH7):c.1822T>G

true

CGEX:CtxNm9078

NM_000059.3(BRCA2):c.3G>T

true

CGEX:CtxNm9079

NM_001458.4(FLNC):c.577G>A

true

CGEX:CtxNm9080

NM_000492.3(CFTR):c.2053dupC

true

CGEX:CtxNm9081

NM_000057.2 (BLM):c.2603C>T

true

CGEX:CtxNm9082

NM_004004.5(GJB2):c.79G>A

true

CGEX:CtxNm9083

NM_023036.4(DNAI2):c.1304G>A

true

CGEX:CtxNm9084

NM_000138.4(FBN1):c.8176C>T

true

CGEX:CtxNm9085

NM_004541.3(NDUFA1):c.94G>C

true

CGEX:CtxNm9086

NM_000414.3(HSD17B4):c.56C>G

true

CGEX:CtxNm9087

NM_001197104.1(KMT2A):c.6572G>A

true

CGEX:CtxNm9088

NM_000038.5(APC ):c.3386T>C

true

CGEX:CtxNm9089

NM_000138.4(FBN1 ):c.2956G>A

true

CGEX:CtxNm9090

NM_000218.2(KCNQ1):c.1179G>T (p.Lys393Asn)

true

CGEX:CtxNm9091

NM_000441.1(SLC26A4): c.349C>T (p.Leu117Phe)

true

CGEX:CtxNm9092

NP_000432..1:p.Leu117Phe

true

CGEX:CtxNm9093

NM_152594.2(SPRED1): c.587C>T

true

CGEX:CtxNm9094

NM_000527.4(LDLR):c.313+2T>C

true

CGEX:CtxNm9095

NM_000256.3(MYBPC3):c.1624+4A>T

true

CGEX:CtxNm9096

NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met)

true

CGEX:CtxNm9097

NM_000059.3(BRCA2) :c.4779A>C

true

CGEX:CtxNm9098

NM_144612.6(LOXHD1 ): c.1028G>A (p.Arg343His)

true

CGEX:CtxNm9099

NM_133378.4(TTN): c.2926T>C

true

CGEX:CtxNm9100

NM_206933.2 (USH2A): c.6721C>T (p.Pro2241Ser)

true

CGEX:CtxNm9101

NM_206933.2(USH2A):c.2276G>T

true

CGEX:CtxNm9102

NM_000492.3(CFTR): c.2002C>T

true

CGEX:CtxNm9103

NP_000483.3:p.Gly576Ala

true

CGEX:CtxNm9104

NM_000257.2(MYH7): c.2559G>A

true

CGEX:CtxNm9105

NM_000257.2(MYH7): c.2537A>G

true

CGEX:CtxNm9106

NM_001271208.1(NEB):c.169_183delCTGGCACAGCCAGCA

true

CGEX:CtxNm9107

NM_133378.4 (TTN): c.26752_26761delACGGCAGAGC

true

CGEX:CtxNm9108

NM_147196.2(TMIE):c.391_393dupAAG

true

CGEX:CtxNm9109

NM_000059.3(BRCA2):c.4779A>C

true

CGEX:CtxNm9111

NM_133379.3(TTN) : c.15283T>C

true

CGEX:CtxNm9112

NM_000256.3(MYBPC3): c.2497G>A

true

CGEX:CtxNm9113

NM_000364.3(TNNT2):c.878G>A

true

CGEX:CtxNm9114

NM_022124.5(CDH23):c.5660C>T

true

CGEX:CtxNm9115

NM_004004.5(GJB2):c.71G>A

true

CGEX:CtxNm9116

NM_004004.5(GJB2):c.230G>A

true

CGEX:CtxNm9117

NM_015404.3(WHRN):c.643delG

true

CGEX:CtxNm9118

NM_001844.4(COL2A1):c.4316C>T

true

CGEX:CtxNm9119

NM_000095.2(COMP):c.1042T>C

true

CGEX:CtxNm9120

NM_007294.3(BRCA1):c.*6207C>T

true

CGEX:CtxNm9121

NM_000059.3(BRCA2):c.-26G>A

true

CGEX:CtxNm9122

NM_000274.3(OAT):c.1311G>C

true

CGEX:CtxNm9123

NM_138691.2 (TMC1): c.684C>T

true

CGEX:CtxNm9124

NM_000257.2(MYH7):c.327C>T

true

CGEX:CtxNm9125

NM_002880.3(RAF1):c.321T>C

true

CGEX:CtxNm9126

NP_005219.2:p.Thr790Met

true

CGEX:CtxNm9127

NM_024422.3(DSC2): c.631-2A>G (p.?)

true

CGEX:CtxNm9128

NM_000441.1(SLC26A4): c.626G>T

true

CGEX:CtxNm9129

NM_000441.1(SLC26A4): c.1707+6T>C

true

CGEX:CtxNm9130

NM_005633.3(SOS1):c.1010A>G (p.Tyr337Cys)

true

CGEX:CtxNm9131

NM_004333.4(BRAF):c.1447A>C (p.Lys483Gln)

true

CGEX:CtxNm9132

NP_004324.2:p.Lys483Gln

true

CGEX:CtxNm9133

NM_004333.4(BRAF):c.1449A>C

true

CGEX:CtxNm9134

NP_004324.2:p.Lys483Asn

true