Canonical Allele Identifier: CA10590059

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 267222
• ClinVar RCV Id: RCV000661004
• dbSNP Id: rs886040865
• MyVariant Identifiers: chr17:g.41199713_41199720del (hg19) ; chr17:g.43047696_43047703del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047696_43047703del , CM000679.2:g.43047696_43047703del	GRCh38
NC_000017.10:g.41199713_41199720del , CM000679.1:g.41199713_41199720del	GRCh37
NC_000017.9:g.38453239_38453246del	NCBI36
NG_005905.2:g.170281_170288del , LRG_292:g.170281_170288del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5404_5411del	ENSP00000417241.2:p.Gly1802ProfsTer24
ENST00000470026.6:c.5407_5414del	ENSP00000419274.2:p.Gly1803ProfsTer24
ENST00000473961.6:c.5281_5288del	ENSP00000420201.2:p.Gly1761ProfsTer24
ENST00000476777.6:c.5401_5408del	ENSP00000417554.2:p.Gly1801ProfsTer24
ENST00000477152.6:c.5329_5336del	ENSP00000419988.2:p.Gly1777ProfsTer24
ENST00000478531.6:c.2095_2102del	ENSP00000420412.2:p.Gly699ProfsTer24
ENST00000489037.2:c.5329_5336del	ENSP00000420781.2:p.Gly1777ProfsTer24
ENST00000493919.6:c.1957_1964del	ENSP00000418819.2:p.Gly653ProfsTer24
ENST00000494123.6:c.5407_5414del	ENSP00000419103.2:p.Gly1803ProfsTer24
ENST00000497488.2:c.4519_4526del	ENSP00000418986.2:p.Gly1507ProfsTer24
ENST00000618469.2:c.5407_5414del	ENSP00000478114.2:p.Gly1803ProfsTer24
ENST00000634433.2:c.5284_5291del	ENSP00000489431.2:p.Gly1762ProfsTer24
ENST00000644379.2:c.5473_5480del	ENSP00000496570.2:p.Gly1825ProfsTer24
ENST00000644555.2:c.1957_1964del	ENSP00000494614.2:p.Gly653ProfsTer24
ENST00000652672.2:c.5266_5273del	ENSP00000498906.2:p.Gly1756ProfsTer24
ENST00000484087.6:c.1969_1976del	ENSP00000419481.2:p.Gly657ProfsTer24
ENST00000700081.1:n.1290_1297del
ENST00000700082.1:n.771_778del
ENST00000357654.9:c.5407_5414del MANE Select	ENSP00000350283.3:p.Gly1803ProfsTer24
ENST00000471181.7:c.5470_5477del	ENSP00000418960.2:p.Gly1824ProfsTer24
ENST00000644379.1:c.1794_1801del
ENST00000352993.7:c.1981_1988del	ENSP00000312236.5:p.Gly661ProfsTer24
ENST00000357654.7:c.5407_5414del	ENSP00000350283.3:p.Gly1803ProfsTer24
ENST00000461221.5:c.*5190_*5197del	ENSP00000418548.1:n.*5190_*5197del
ENST00000468300.5:c.2021_2028del	ENSP00000417148.1:p.Gly674AlafsTer29
ENST00000471181.6:c.5470_5477del	ENSP00000418960.2:p.Gly1824ProfsTer24
ENST00000491747.6:c.2095_2102del	ENSP00000420705.2:p.Gly699ProfsTer24
ENST00000493795.5:c.5266_5273del	ENSP00000418775.1:p.Gly1756ProfsTer24
ENST00000586385.5:c.337_344del	ENSP00000465818.1:p.Gly113ProfsTer24
ENST00000591534.5:c.880_887del	ENSP00000467329.1:p.Gly294ProfsTer24
ENST00000591849.5:c.106_113del	ENSP00000465347.1:p.Gly36ProfsTer24
NM_007294.3:c.5407_5414del , LRG_292t1:c.5407_5414del	NP_009225.1:p.Gly1803ProfsTer24
NM_007297.3:c.5266_5273del	NP_009228.2:p.Gly1756ProfsTer24
NM_007298.3:c.2095_2102del	NP_009229.2:p.Gly699ProfsTer24
NM_007299.3:c.2021_2028del	NP_009230.2:p.Gly674AlafsTer29
NM_007300.3:c.5470_5477del	NP_009231.2:p.Gly1824ProfsTer24
NR_027676.1:n.5543_5550del
NM_007294.4:c.5407_5414del MANE Select	NP_009225.1:p.Gly1803ProfsTer24
NM_007297.4:c.5266_5273del	NP_009228.2:p.Gly1756ProfsTer24
NM_007299.4:c.2021_2028del	NP_009230.2:p.Gly674AlafsTer29
NM_007300.4:c.5470_5477del	NP_009231.2:p.Gly1824ProfsTer24
NR_027676.2:n.5584_5591del