|
CA401-NM_001014794.2-c.448+13A>G
|
CanonicalAllele
|
|
|
CA402-NM_007294.3-BRCA1-c.5297T>G
|
CanonicalAllele
|
Substitution nucleotide change with all genomic/transcript ContextualAlleles.
|
|
CA403-NP_0099225.1-BRCA1-p.Ile1766Ser
|
CanonicalAllele
|
Missense amino acid change with equivalent amino acid ContextualAlleles.
|
|
G101-ILK
|
Gene
|
A minimal Gene resource example.
|
|
G102-BRCA1
|
Gene
|
Gene example with aliases.
|
|
RS201-NM_001014794.2-ILK
|
ReferenceSequence
|
ILK transcript variant 2, mRNA w/ Gene reference.
|
|
RS202-NC_000011.9-b37
|
ReferenceSequence
|
Genomic Chromosome 11 sequence from GRCh37 build.
|
|
RS203-NC_000011.10-b38
|
ReferenceSequence
|
Genomic Chromosome 11 sequence from GRCh38 build.
|
|
RS210-NC_000017.11-b38
|
ReferenceSequence
|
Genomic Chromosome 17 sequence from GRCh38 build.
|
|
RS211-NC_000017.10-b37
|
ReferenceSequence
|
Genomic Chromosome 17 sequence from GRCh37 build.
|
|
RS212-NG_005905.2-BRCA1
|
ReferenceSequence
|
Genomic Gene BRCA1 sequence w/ Gene reference.
|
|
RS213-NM_007294.3-BRCA1
|
ReferenceSequence
|
BRCA1 transcript w/ Gene & Protein sequence reference.
|
|
RS214-NP_009225.1-BRCA1
|
ReferenceSequence
|
BRCA1 transcript w/ Gene & Protein sequence reference.
|
|
RS215-U14680.1-BRCA1
|
ReferenceSequence
|
Genomic Gene BRCA1 sequence w/ Gene reference.
|
|
RS216-LRG_292p1-BRCA1
|
ReferenceSequence
|
|
|
RS217-LRG_292t1-BRCA1
|
ReferenceSequence
|
|
|
RS218-LRG_292-BRCA1
|
ReferenceSequence
|
|
|
AI301-NM_001014794.2-ILK-c.448+14A>G-b37
|
ContextualAllele
|
|
|
AI302-NM_001014794.2-ILK-c.448+13A>G-b38
|
ContextualAllele
|
|
|
AI303-NC_000011.9-g.6630034A>G-b37
|
ContextualAllele
|
|
|
AI304-NC_000011.10-g.6608803A>G-b38
|
ContextualAllele
|
|
|
AI310-NM_007294.3-BRCA1-c.5297T>G
|
ContextualAllele
|
BRCA1 substitution on primary transcript
|
|
AI311-U14680.1-BRCA1-n.5416T>G
|
ContextualAllele
|
BRCA1 substitution on genomic gene sequence
|
|
AI312-NP_009225.1-BRCA1-p.Ile1766Ser
|
ContextualAllele
|
BRCA1 missense amino acid variant Ile1766Ser
|
|
AI313-NR_027676.1-BRCA1-n.5433T>G
|
ContextualAllele
|
|
|
AI314-NC_000017.10-g.41203115A>C-b37
|
ContextualAllele
|
|
|
AI315-NC_000017.11-g.43051098A>C-b38
|
ContextualAllele
|
|
|
AI316-NG_005905.2-BRCA1-g.166886T>G
|
ContextualAllele
|
|
|
AI317-LRG_292-BRCA1-g.166886T>G
|
ContextualAllele
|
|
|
AI318-LRG_292t1-BRCA1-c.5297T>G
|
ContextualAllele
|
|
|
AI319-LRG_292p1-BRCA1-p.Ile1766Ser
|
ContextualAllele
|
|