Canonical Allele Identifier: CA1139664807

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 935747
• ClinVar RCV Id: RCV001204403 ; RCV001284303
• dbSNP Id: rs886040319

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094745del , CM000679.2:g.43094745del	GRCh38
NC_000017.10:g.41246762del , CM000679.1:g.41246762del	GRCh37
NC_000017.9:g.38500288del	NCBI36
NG_005905.2:g.123241del , LRG_292:g.123241del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.852del
ENST00000461574.2:c.788del	ENSP00000417241.2:p.Gly263ValfsTer?
ENST00000470026.6:c.788del	ENSP00000419274.2:p.Gly263ValfsTer?
ENST00000473961.6:c.662del	ENSP00000420201.2:p.Gly221ValfsTer?
ENST00000476777.6:c.785del	ENSP00000417554.2:p.Gly262ValfsTer?
ENST00000477152.6:c.710del	ENSP00000419988.2:p.Gly237ValfsTer?
ENST00000478531.6:c.784+1del
ENST00000489037.2:c.710del	ENSP00000420781.2:p.Gly237ValfsTer?
ENST00000493919.6:c.646+1del
ENST00000494123.6:c.788del	ENSP00000419103.2:p.Gly263ValfsTer?
ENST00000497488.2:c.-101del	ENSP00000418986.2:n.-101del
ENST00000618469.2:c.788del	ENSP00000478114.2:p.Gly263ValfsTer?
ENST00000634433.2:c.665del	ENSP00000489431.2:p.Gly222ValfsTer?
ENST00000644379.2:c.788del	ENSP00000496570.2:p.Gly263ValfsTer?
ENST00000644555.2:c.646+1del
ENST00000652672.2:c.647del	ENSP00000498906.2:p.Gly216ValfsTer?
ENST00000484087.6:c.664+1del
ENST00000700182.1:c.706+1del
ENST00000700183.1:c.*796del	ENSP00000514850.1:n.*796del
ENST00000357654.9:c.788del MANE Select	ENSP00000350283.3:p.Gly263ValfsTer?
ENST00000471181.7:c.788del	ENSP00000418960.2:p.Gly263ValfsTer?
ENST00000642945.1:c.*662del	ENSP00000495897.1:n.*662del
ENST00000652672.1:c.647del	ENSP00000498906.1:p.Gly216ValfsTer?
ENST00000352993.7:c.670+1103del	ENSP00000312236.5:n.670+1103del
ENST00000354071.7:c.788del	ENSP00000326002.7:p.Gly263ValfsTer?
ENST00000357654.7:c.788del	ENSP00000350283.3:p.Gly263ValfsTer?
ENST00000412061.3:c.139del
ENST00000461221.5:c.*571del	ENSP00000418548.1:n.*571del
ENST00000468300.5:c.787+1del
ENST00000470026.5:c.788del	ENSP00000419274.1:p.Gly263ValfsTer?
ENST00000471181.6:c.788del	ENSP00000418960.2:p.Gly263ValfsTer?
ENST00000473961.5:c.385del
ENST00000477152.5:c.710del	ENSP00000419988.1:p.Gly237ValfsTer?
ENST00000478531.5:c.784+1del
ENST00000484087.5:c.409+1del
ENST00000487825.5:c.412+1del
ENST00000491747.6:c.787+1del
ENST00000492859.5:c.*724del	ENSP00000420253.1:n.*724del
ENST00000493795.5:c.647del	ENSP00000418775.1:p.Gly216ValfsTer?
ENST00000493919.5:c.646+1del
ENST00000494123.5:c.788del	ENSP00000419103.1:p.Gly263ValfsTer?
ENST00000497488.1:c.-101del	ENSP00000418986.1:n.-101del
ENST00000586385.5:c.4+30439del	ENSP00000465818.1:n.4+30439del
ENST00000591534.5:c.-43-20222del	ENSP00000467329.1:n.-43-20222del
ENST00000591849.5:c.-99+30528del	ENSP00000465347.1:n.-99+30528del
ENST00000634433.1:c.665del	ENSP00000489431.1:p.Gly222ValfsTer?
NM_007294.3:c.788del , LRG_292t1:c.788del	NP_009225.1:p.Gly263ValfsTer?
NM_007297.3:c.647del	NP_009228.2:p.Gly216ValfsTer?
NM_007298.3:c.787+1del
NM_007299.3:c.787+1del
NM_007300.3:c.788del	NP_009231.2:p.Gly263ValfsTer?
NR_027676.1:n.924del
NM_007294.4:c.788del MANE Select	NP_009225.1:p.Gly263ValfsTer?
NM_007297.4:c.647del	NP_009228.2:p.Gly216ValfsTer?
NM_007299.4:c.787+1del
NM_007300.4:c.788del	NP_009231.2:p.Gly263ValfsTer?
NR_027676.2:n.965del