Canonical Allele Identifier: CA2697559917

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2692393
• ClinVar RCV Id: RCV003494585

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43070145_43072775del , CM000679.2:g.43070145_43072775del	GRCh38
NC_000017.10:g.41222162_41224792del , CM000679.1:g.41222162_41224792del	GRCh37
NC_000017.9:g.38475688_38478318del	NCBI36
NG_005905.2:g.145218_147848del , LRG_292:g.145218_147848del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.4673-1528_4983+792del
ENST00000470026.6:c.4676-1528_4986+792del
ENST00000473961.6:c.4550-1528_4860+792del
ENST00000476777.6:c.4670-1528_4980+792del
ENST00000477152.6:c.4598-1528_4908+792del
ENST00000478531.6:c.1364-1528_1674+792del
ENST00000489037.2:c.4598-1528_4908+792del
ENST00000493919.6:c.1226-1528_1536+792del
ENST00000494123.6:c.4676-1528_4986+792del
ENST00000497488.2:c.3788-1528_4098+792del
ENST00000618469.2:c.4676-1528_4986+792del
ENST00000634433.2:c.4553-1528_4863+792del
ENST00000644379.2:c.4742-1528_5052+792del
ENST00000644555.2:c.1226-1528_1536+792del
ENST00000652672.2:c.4535-1528_4845+792del
ENST00000484087.6:c.1238-1528_1548+792del
ENST00000357654.9:c.4676-1528_4986+792del
ENST00000471181.7:c.4739-1528_5049+792del
ENST00000644379.1:c.1063-1528_1373+792del
ENST00000352993.7:c.1250-1528_1560+792del
ENST00000357654.7:c.4676-1528_4986+792del
ENST00000461221.5:c.*4459-1528_*4769+792del
ENST00000468300.5:c.1364-1528_1674+792del
ENST00000471181.6:c.4739-1528_5049+792del
ENST00000478531.5:c.1364-1528_1674+792del
ENST00000484087.5:c.989-1528_1299+792del
ENST00000491747.6:c.1364-1528_1674+792del
ENST00000493795.5:c.4535-1528_4845+792del
ENST00000493919.5:c.1226-1528_1536+792del
ENST00000586385.5:c.5-8815_5-6185del	ENSP00000465818.1:n.5-8815_5-6185del
ENST00000591534.5:c.149-1528_459+792del
ENST00000591849.5:c.-98-22576_-98-19946del	ENSP00000465347.1:n.-98-22576_-98-19946de...
NM_007294.3:c.4676-1528_4986+792del , LRG_292t1:c.4676-1528_4986+792del
NM_007297.3:c.4535-1528_4845+792del
NM_007298.3:c.1364-1528_1674+792del
NM_007299.3:c.1364-1528_1674+792del
NM_007300.3:c.4739-1528_5049+792del
NR_027676.1:n.4812-1528_5122+792del
NM_007294.4:c.4676-1528_4986+792del
NM_007297.4:c.4535-1528_4845+792del
NM_007299.4:c.1364-1528_1674+792del
NM_007300.4:c.4739-1528_5049+792del
NR_027676.2:n.4853-1528_5163+792del