Canonical Allele Identifier: CA003987
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 55768
dbSNP Id: rs273903794

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094569del , CM000679.2:g.43094569del GRCh38
NC_000017.10:g.41246586del , CM000679.1:g.41246586del GRCh37
NC_000017.9:g.38500112del NCBI36
NG_005905.2:g.123417del , LRG_292:g.123417del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1028del
ENST00000461574.2:c.964del ENSP00000417241.2:p.Ala322LeufsTer19
ENST00000470026.6:c.964del ENSP00000419274.2:p.Ala322LeufsTer19
ENST00000473961.6:c.838del ENSP00000420201.2:p.Ala280LeufsTer19
ENST00000476777.6:c.961del ENSP00000417554.2:p.Ala321LeufsTer19
ENST00000477152.6:c.886del ENSP00000419988.2:p.Ala296LeufsTer19
ENST00000478531.6:c.784+177del ENSP00000420412.2:n.784+177del
ENST00000489037.2:c.886del ENSP00000420781.2:p.Ala296LeufsTer19
ENST00000493919.6:c.646+177del ENSP00000418819.2:n.646+177del
ENST00000494123.6:c.964del ENSP00000419103.2:p.Ala322LeufsTer19
ENST00000497488.2:c.76del ENSP00000418986.2:p.Ala26LeufsTer19
ENST00000618469.2:c.964del ENSP00000478114.2:p.Ala322LeufsTer19
ENST00000634433.2:c.841del ENSP00000489431.2:p.Ala281LeufsTer19
ENST00000644379.2:c.964del ENSP00000496570.2:p.Ala322LeufsTer19
ENST00000644555.2:c.646+177del ENSP00000494614.2:n.646+177del
ENST00000652672.2:c.823del ENSP00000498906.2:p.Ala275LeufsTer19
ENST00000484087.6:c.664+177del ENSP00000419481.2:n.664+177del
ENST00000700182.1:c.706+177del ENSP00000514849.1:n.706+177del
ENST00000700183.1:c.*972del ENSP00000514850.1:n.*972del
ENST00000357654.9:c.964del MANE Select ENSP00000350283.3:p.Ala322LeufsTer19
ENST00000471181.7:c.964del ENSP00000418960.2:p.Ala322LeufsTer19
ENST00000642945.1:c.*838del ENSP00000495897.1:n.*838del
ENST00000652672.1:c.823del ENSP00000498906.1:p.Ala275LeufsTer19
ENST00000352993.7:c.670+1279del ENSP00000312236.5:n.670+1279del
ENST00000354071.7:c.964del ENSP00000326002.7:p.Ala322LeufsTer19
ENST00000357654.7:c.964del ENSP00000350283.3:p.Ala322LeufsTer19
ENST00000412061.3:c.315del
ENST00000461221.5:c.*747del ENSP00000418548.1:n.*747del
ENST00000468300.5:c.787+177del ENSP00000417148.1:n.787+177del
ENST00000470026.5:c.964del ENSP00000419274.1:p.Ala322LeufsTer19
ENST00000471181.6:c.964del ENSP00000418960.2:p.Ala322LeufsTer19
ENST00000473961.5:c.561del
ENST00000477152.5:c.886del ENSP00000419988.1:p.Ala296LeufsTer19
ENST00000478531.5:c.784+177del ENSP00000420412.1:n.784+177del
ENST00000484087.5:c.409+177del ENSP00000419481.1:n.409+177del
ENST00000487825.5:c.412+177del ENSP00000418212.1:n.412+177del
ENST00000491747.6:c.787+177del ENSP00000420705.2:n.787+177del
ENST00000492859.5:c.*900del ENSP00000420253.1:n.*900del
ENST00000493795.5:c.823del ENSP00000418775.1:p.Ala275LeufsTer19
ENST00000493919.5:c.646+177del ENSP00000418819.1:n.646+177del
ENST00000494123.5:c.964del ENSP00000419103.1:p.Ala322LeufsTer19
ENST00000497488.1:c.76del ENSP00000418986.1:p.Ala26LeufsTer19
ENST00000586385.5:c.5-30616del ENSP00000465818.1:n.5-30616del
ENST00000591534.5:c.-43-20046del ENSP00000467329.1:n.-43-20046del
ENST00000591849.5:c.-99+30704del ENSP00000465347.1:n.-99+30704del
ENST00000634433.1:c.841del ENSP00000489431.1:p.Ala281LeufsTer19
NM_007294.3:c.964del , LRG_292t1:c.964del NP_009225.1:p.Ala322LeufsTer19
NM_007297.3:c.823del NP_009228.2:p.Ala275LeufsTer19
NM_007298.3:c.787+177del NP_009229.2:n.787+177del
NM_007299.3:c.787+177del NP_009230.2:n.787+177del
NM_007300.3:c.964del NP_009231.2:p.Ala322LeufsTer19
NR_027676.1:n.1100del
NM_007294.4:c.964del MANE Select NP_009225.1:p.Ala322LeufsTer19
NM_007297.4:c.823del NP_009228.2:p.Ala275LeufsTer19
NM_007299.4:c.787+177del NP_009230.2:n.787+177del
NM_007300.4:c.964del NP_009231.2:p.Ala322LeufsTer19
NR_027676.2:n.1141del