Canonical Allele Identifier: CA913187754

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 920989
• ClinVar RCV Id: RCV001180118
• dbSNP Id: rs2051116920

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049502_43049505delinsGACA , CM000679.2:g.43049502_43049505delinsGACA	GRCh38
NC_000017.10:g.41201519_41201522delinsGACA , CM000679.1:g.41201519_41201522delinsGACA	GRCh37
NC_000017.9:g.38455045_38455048delinsGACA	NCBI36
NG_005905.2:g.168479_168482delinsTGTC , LRG_292:g.168479_168482delinsTGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5330-311_5330-308delinsTGTC	ENSP00000417241.2:n.5330-311_5330-308delinsTGTC
ENST00000470026.6:c.5333-311_5333-308delinsTGTC	ENSP00000419274.2:n.5333-311_5333-308delinsTGTC
ENST00000473961.6:c.5207-311_5207-308delinsTGTC	ENSP00000420201.2:n.5207-311_5207-308delinsTGTC
ENST00000476777.6:c.5327-311_5327-308delinsTGTC	ENSP00000417554.2:n.5327-311_5327-308delinsTGTC
ENST00000477152.6:c.5255-311_5255-308delinsTGTC	ENSP00000419988.2:n.5255-311_5255-308delinsTGTC
ENST00000478531.6:c.2021-311_2021-308delinsTGTC	ENSP00000420412.2:n.2021-311_2021-308delinsTGTC
ENST00000489037.2:c.5255-311_5255-308delinsTGTC	ENSP00000420781.2:n.5255-311_5255-308delinsTGTC
ENST00000493919.6:c.1883-311_1883-308delinsTGTC	ENSP00000418819.2:n.1883-311_1883-308delinsTGTC
ENST00000494123.6:c.5333-311_5333-308delinsTGTC	ENSP00000419103.2:n.5333-311_5333-308delinsTGTC
ENST00000497488.2:c.4445-311_4445-308delinsTGTC	ENSP00000418986.2:n.4445-311_4445-308delinsTGTC
ENST00000618469.2:c.5333-311_5333-308delinsTGTC	ENSP00000478114.2:n.5333-311_5333-308delinsTGTC
ENST00000634433.2:c.5210-311_5210-308delinsTGTC	ENSP00000489431.2:n.5210-311_5210-308delinsTGTC
ENST00000644379.2:c.5399-311_5399-308delinsTGTC	ENSP00000496570.2:n.5399-311_5399-308delinsTGTC
ENST00000644555.2:c.1883-311_1883-308delinsTGTC	ENSP00000494614.2:n.1883-311_1883-308delinsTGTC
ENST00000652672.2:c.5192-311_5192-308delinsTGTC	ENSP00000498906.2:n.5192-311_5192-308delinsTGTC
ENST00000484087.6:c.1895-311_1895-308delinsTGTC	ENSP00000419481.2:n.1895-311_1895-308delinsTGTC
ENST00000700081.1:n.905_908delinsTGTC
ENST00000357654.9:c.5333-311_5333-308delinsTGTC MANE Select	ENSP00000350283.3:n.5333-311_5333-308delinsTGTC
ENST00000471181.7:c.5396-311_5396-308delinsTGTC	ENSP00000418960.2:n.5396-311_5396-308delinsTGTC
ENST00000644379.1:c.1720-311_1720-308delinsTGTC
ENST00000352993.7:c.1907-311_1907-308delinsTGTC	ENSP00000312236.5:n.1907-311_1907-308delinsTGTC
ENST00000357654.7:c.5333-311_5333-308delinsTGTC	ENSP00000350283.3:n.5333-311_5333-308delinsTGTC
ENST00000461221.5:c.*5116-311_*5116-308delinsTGTC	ENSP00000418548.1:n.*5116-311_*5116-308delinsTGTC
ENST00000468300.5:c.2020+1558_2020+1561delinsTGTC	ENSP00000417148.1:n.2020+1558_2020+1561delinsTGTC
ENST00000471181.6:c.5396-311_5396-308delinsTGTC	ENSP00000418960.2:n.5396-311_5396-308delinsTGTC
ENST00000491747.6:c.2021-311_2021-308delinsTGTC	ENSP00000420705.2:n.2021-311_2021-308delinsTGTC
ENST00000493795.5:c.5192-311_5192-308delinsTGTC	ENSP00000418775.1:n.5192-311_5192-308delinsTGTC
ENST00000586385.5:c.263-311_263-308delinsTGTC	ENSP00000465818.1:n.263-311_263-308delinsTGTC
ENST00000591534.5:c.806-311_806-308delinsTGTC	ENSP00000467329.1:n.806-311_806-308delinsTGTC
ENST00000591849.5:c.32-311_32-308delinsTGTC	ENSP00000465347.1:n.32-311_32-308delinsTGTC
NM_007294.3:c.5333-311_5333-308delinsTGTC , LRG_292t1:c.5333-311_5333-308delinsTGTC	NP_009225.1:n.5333-311_5333-308delinsTGTC
NM_007297.3:c.5192-311_5192-308delinsTGTC	NP_009228.2:n.5192-311_5192-308delinsTGTC
NM_007298.3:c.2021-311_2021-308delinsTGTC	NP_009229.2:n.2021-311_2021-308delinsTGTC
NM_007299.3:c.2020+1558_2020+1561delinsTGTC	NP_009230.2:n.2020+1558_2020+1561delinsTGTC
NM_007300.3:c.5396-311_5396-308delinsTGTC	NP_009231.2:n.5396-311_5396-308delinsTGTC
NR_027676.1:n.5469-311_5469-308delinsTGTC
NM_007294.4:c.5333-311_5333-308delinsTGTC MANE Select	NP_009225.1:n.5333-311_5333-308delinsTGTC
NM_007297.4:c.5192-311_5192-308delinsTGTC	NP_009228.2:n.5192-311_5192-308delinsTGTC
NM_007299.4:c.2020+1558_2020+1561delinsTGTC	NP_009230.2:n.2020+1558_2020+1561delinsTGTC
NM_007300.4:c.5396-311_5396-308delinsTGTC	NP_009231.2:n.5396-311_5396-308delinsTGTC
NR_027676.2:n.5510-311_5510-308delinsTGTC