Canonical Allele Identifier: CA003598

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55579
• ClinVar RCV Id: RCV000112655
• dbSNP Id: rs80357946
• COSMIC: COSM23923
• MyVariant Identifiers: chr17:g.41199687del (hg19) ; chr17:g.43047670del (hg38)
• PubMed: PMID:7795636

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047670del , CM000679.2:g.43047670del	GRCh38
NC_000017.10:g.41199687del , CM000679.1:g.41199687del	GRCh37
NC_000017.9:g.38453213del	NCBI36
NG_005905.2:g.170314del , LRG_292:g.170314del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5437del	ENSP00000417241.2:p.Ala1813ProfsTer20
ENST00000470026.6:c.5440del	ENSP00000419274.2:p.Ala1814ProfsTer20
ENST00000473961.6:c.5314del	ENSP00000420201.2:p.Ala1772ProfsTer20
ENST00000476777.6:c.5434del	ENSP00000417554.2:p.Ala1812ProfsTer20
ENST00000477152.6:c.5362del	ENSP00000419988.2:p.Ala1788ProfsTer20
ENST00000478531.6:c.2128del	ENSP00000420412.2:p.Ala710ProfsTer20
ENST00000489037.2:c.5362del	ENSP00000420781.2:p.Ala1788ProfsTer20
ENST00000493919.6:c.1990del	ENSP00000418819.2:p.Ala664ProfsTer20
ENST00000494123.6:c.5440del	ENSP00000419103.2:p.Ala1814ProfsTer20
ENST00000497488.2:c.4552del	ENSP00000418986.2:p.Ala1518ProfsTer20
ENST00000618469.2:c.5440del	ENSP00000478114.2:p.Ala1814ProfsTer20
ENST00000634433.2:c.5317del	ENSP00000489431.2:p.Ala1773ProfsTer20
ENST00000644379.2:c.5506del	ENSP00000496570.2:p.Ala1836ProfsTer20
ENST00000644555.2:c.1990del	ENSP00000494614.2:p.Ala664ProfsTer20
ENST00000652672.2:c.5299del	ENSP00000498906.2:p.Ala1767ProfsTer20
ENST00000484087.6:c.2002del	ENSP00000419481.2:p.Ala668ProfsTer20
ENST00000700081.1:n.1323del
ENST00000700082.1:n.804del
ENST00000357654.9:c.5440del MANE Select	ENSP00000350283.3:p.Ala1814ProfsTer20
ENST00000471181.7:c.5503del	ENSP00000418960.2:p.Ala1835ProfsTer20
ENST00000644379.1:c.1827del
ENST00000352993.7:c.2014del	ENSP00000312236.5:p.Ala672ProfsTer20
ENST00000357654.7:c.5440del	ENSP00000350283.3:p.Ala1814ProfsTer20
ENST00000461221.5:c.*5223del	ENSP00000418548.1:n.*5223del
ENST00000468300.5:c.2054del	ENSP00000417148.1:p.Cys685SerfsTer?
ENST00000471181.6:c.5503del	ENSP00000418960.2:p.Ala1835ProfsTer20
ENST00000491747.6:c.2128del	ENSP00000420705.2:p.Ala710ProfsTer20
ENST00000493795.5:c.5299del	ENSP00000418775.1:p.Ala1767ProfsTer20
ENST00000586385.5:c.370del	ENSP00000465818.1:p.Ala124ProfsTer20
ENST00000591534.5:c.913del	ENSP00000467329.1:p.Ala305ProfsTer20
ENST00000591849.5:c.139del	ENSP00000465347.1:p.Ala47ProfsTer20
NM_007294.3:c.5440del , LRG_292t1:c.5440del	NP_009225.1:p.Ala1814ProfsTer20
NM_007297.3:c.5299del	NP_009228.2:p.Ala1767ProfsTer20
NM_007298.3:c.2128del	NP_009229.2:p.Ala710ProfsTer20
NM_007299.3:c.2054del	NP_009230.2:p.Cys685SerfsTer?
NM_007300.3:c.5503del	NP_009231.2:p.Ala1835ProfsTer20
NR_027676.1:n.5576del
NM_007294.4:c.5440del MANE Select	NP_009225.1:p.Ala1814ProfsTer20
NM_007297.4:c.5299del	NP_009228.2:p.Ala1767ProfsTer20
NM_007299.4:c.2054del	NP_009230.2:p.Cys685SerfsTer?
NM_007300.4:c.5503del	NP_009231.2:p.Ala1835ProfsTer20
NR_027676.2:n.5617del