Canonical Allele Identifier: CA10602599

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267611
• ClinVar RCV Id: RCV000258378 ; RCV000590865 ; RCV000690232 ; RCV003321578
• dbSNP Id: rs886040922
• MyVariant Identifiers: chr17:g.41247862del (hg19) ; chr17:g.43095845del (hg38)
• PubMed: PMID:19795481 ; PMID:24667779

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43095847del , CM000679.2:g.43095847del	GRCh38
NC_000017.10:g.41247864del , CM000679.1:g.41247864del	GRCh37
NC_000017.9:g.38501390del	NCBI36
NG_005905.2:g.122139del , LRG_292:g.122139del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.734+1del
ENST00000461574.2:c.670+1del
ENST00000470026.6:c.670+1del
ENST00000473961.6:c.545-985del	ENSP00000420201.2:n.545-985del
ENST00000476777.6:c.667+1del
ENST00000477152.6:c.592+1del
ENST00000478531.6:c.667+1del
ENST00000489037.2:c.592+1del
ENST00000493919.6:c.529+1del
ENST00000494123.6:c.670+1del
ENST00000497488.2:c.-218-985del	ENSP00000418986.2:n.-218-985del
ENST00000618469.2:c.670+1del
ENST00000634433.2:c.548-985del	ENSP00000489431.2:n.548-985del
ENST00000644379.2:c.670+1del
ENST00000644555.2:c.529+1del
ENST00000652672.2:c.529+1del
ENST00000484087.6:c.548-985del	ENSP00000419481.2:n.548-985del
ENST00000700182.1:c.589+1del
ENST00000700183.1:c.*678+1del
ENST00000357654.9:c.670+1del
ENST00000471181.7:c.670+1del
ENST00000642945.1:c.*544+1del
ENST00000652672.1:c.529+1del
ENST00000352993.7:c.670+1del
ENST00000354071.7:c.670+1del
ENST00000357654.7:c.670+1del
ENST00000412061.3:c.21+1del
ENST00000461221.5:c.*453+1del
ENST00000468300.5:c.670+1del
ENST00000470026.5:c.670+1del
ENST00000471181.6:c.670+1del
ENST00000473961.5:c.268-985del
ENST00000477152.5:c.592+1del
ENST00000478531.5:c.667+1del
ENST00000484087.5:c.293-985del	ENSP00000419481.1:n.293-985del
ENST00000487825.5:c.296-985del	ENSP00000418212.1:n.296-985del
ENST00000491747.6:c.670+1del
ENST00000492859.5:c.*606+1del
ENST00000493795.5:c.529+1del
ENST00000493919.5:c.529+1del
ENST00000494123.5:c.670+1del
ENST00000497488.1:c.-218-985del	ENSP00000418986.1:n.-218-985del
ENST00000586385.5:c.4+29337del	ENSP00000465818.1:n.4+29337del
ENST00000591534.5:c.-43-21324del	ENSP00000467329.1:n.-43-21324del
ENST00000591849.5:c.-99+29426del	ENSP00000465347.1:n.-99+29426del
ENST00000634433.1:c.548-985del	ENSP00000489431.1:n.548-985del
NM_007294.3:c.670+1del , LRG_292t1:c.670+1del
NM_007297.3:c.529+1del
NM_007298.3:c.670+1del
NM_007299.3:c.670+1del
NM_007300.3:c.670+1del
NR_027676.1:n.806+1del
NM_007294.4:c.670+1del
NM_007297.4:c.529+1del
NM_007299.4:c.670+1del
NM_007300.4:c.670+1del
NR_027676.2:n.847+1del