Canonical Allele Identifier: CA645373175
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431251
dbSNP Id: rs1555587185

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091785dup , CM000679.2:g.43091785dup GRCh38
NC_000017.10:g.41243802dup , CM000679.1:g.41243802dup GRCh37
NC_000017.9:g.38497328dup NCBI36
NG_005905.2:g.126200dup , LRG_292:g.126200dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3811dup
ENST00000461574.2:c.3747dup ENSP00000417241.2:p.Glu1250ArgfsTer5
ENST00000470026.6:c.3747dup ENSP00000419274.2:p.Glu1250ArgfsTer5
ENST00000473961.6:c.3621dup ENSP00000420201.2:p.Glu1208ArgfsTer5
ENST00000476777.6:c.3744dup ENSP00000417554.2:p.Glu1249ArgfsTer5
ENST00000477152.6:c.3669dup ENSP00000419988.2:p.Glu1224ArgfsTer5
ENST00000478531.6:c.785-752dup ENSP00000420412.2:n.785-752dup
ENST00000489037.2:c.3669dup ENSP00000420781.2:p.Glu1224ArgfsTer5
ENST00000493919.6:c.647-752dup ENSP00000418819.2:n.647-752dup
ENST00000494123.6:c.3747dup ENSP00000419103.2:p.Glu1250ArgfsTer5
ENST00000497488.2:c.2859dup ENSP00000418986.2:p.Glu954ArgfsTer5
ENST00000618469.2:c.3747dup ENSP00000478114.2:p.Glu1250ArgfsTer5
ENST00000634433.2:c.3624dup ENSP00000489431.2:p.Glu1209ArgfsTer5
ENST00000644379.2:c.3747dup ENSP00000496570.2:p.Glu1250ArgfsTer5
ENST00000644555.2:c.647-752dup ENSP00000494614.2:n.647-752dup
ENST00000652672.2:c.3606dup ENSP00000498906.2:p.Glu1203ArgfsTer5
ENST00000484087.6:c.665-752dup ENSP00000419481.2:n.665-752dup
ENST00000700182.1:c.707-752dup ENSP00000514849.1:n.707-752dup
ENST00000357654.9:c.3747dup MANE Select ENSP00000350283.3:p.Glu1250ArgfsTer5
ENST00000471181.7:c.3747dup ENSP00000418960.2:p.Glu1250ArgfsTer5
ENST00000644379.1:c.68dup
ENST00000352993.7:c.671-752dup ENSP00000312236.5:n.671-752dup
ENST00000354071.7:c.3747dup ENSP00000326002.7:p.Glu1250ArgfsTer5
ENST00000357654.7:c.3747dup ENSP00000350283.3:p.Glu1250ArgfsTer5
ENST00000461221.5:c.*3530dup ENSP00000418548.1:n.*3530dup
ENST00000461574.1:c.41dup
ENST00000468300.5:c.788-752dup ENSP00000417148.1:n.788-752dup
ENST00000471181.6:c.3747dup ENSP00000418960.2:p.Glu1250ArgfsTer5
ENST00000478531.5:c.785-752dup ENSP00000420412.1:n.785-752dup
ENST00000484087.5:c.410-752dup ENSP00000419481.1:n.410-752dup
ENST00000487825.5:c.413-752dup ENSP00000418212.1:n.413-752dup
ENST00000491747.6:c.788-752dup ENSP00000420705.2:n.788-752dup
ENST00000493795.5:c.3606dup ENSP00000418775.1:p.Glu1203ArgfsTer5
ENST00000493919.5:c.647-752dup ENSP00000418819.1:n.647-752dup
ENST00000586385.5:c.5-27833dup ENSP00000465818.1:n.5-27833dup
ENST00000591534.5:c.-43-17263dup ENSP00000467329.1:n.-43-17263dup
ENST00000591849.5:c.-99+33487dup ENSP00000465347.1:n.-99+33487dup
NM_007294.3:c.3747dup , LRG_292t1:c.3747dup NP_009225.1:p.Glu1250ArgfsTer5
NM_007297.3:c.3606dup NP_009228.2:p.Glu1203ArgfsTer5
NM_007298.3:c.788-752dup NP_009229.2:n.788-752dup
NM_007299.3:c.788-752dup NP_009230.2:n.788-752dup
NM_007300.3:c.3747dup NP_009231.2:p.Glu1250ArgfsTer5
NR_027676.1:n.3883dup
NM_007294.4:c.3747dup MANE Select NP_009225.1:p.Glu1250ArgfsTer5
NM_007297.4:c.3606dup NP_009228.2:p.Glu1203ArgfsTer5
NM_007299.4:c.788-752dup NP_009230.2:n.788-752dup
NM_007300.4:c.3747dup NP_009231.2:p.Glu1250ArgfsTer5
NR_027676.2:n.3924dup