ClinGen DataExchange Model

Scope and Usage

Attributes

Name	Type	Cardinality	Description	IRI	Defined in
name	string	0..1		CG:0006	ContextualAlleleName
nameType	@id	1..1		CG:0015	ContextualAlleleName
preferred	boolean	1..1		CG:0007	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	name	preferred
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

ContextualAlleleName

Scope and Usage

Attributes

Instances

Model Overview

Getting Started

A Deeper Dive

FAQ

Entities

Terminologies

Tools