Canonical Allele Identifier: CA001438
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54475
ClinVar RCV Id: RCV000111776
dbSNP Id: rs273898679

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093389del , CM000679.2:g.43093389del GRCh38
NC_000017.10:g.41245406del , CM000679.1:g.41245406del GRCh37
NC_000017.9:g.38498932del NCBI36
NG_005905.2:g.124595del , LRG_292:g.124595del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.2206del
ENST00000461574.2:c.2142del ENSP00000417241.2:p.Asn714LysfsTer22
ENST00000470026.6:c.2142del ENSP00000419274.2:p.Asn714LysfsTer22
ENST00000473961.6:c.2016del ENSP00000420201.2:p.Asn672LysfsTer22
ENST00000476777.6:c.2139del ENSP00000417554.2:p.Asn713LysfsTer22
ENST00000477152.6:c.2064del ENSP00000419988.2:p.Asn688LysfsTer22
ENST00000478531.6:c.784+1355del ENSP00000420412.2:n.784+1355del
ENST00000489037.2:c.2064del ENSP00000420781.2:p.Asn688LysfsTer22
ENST00000493919.6:c.646+1355del ENSP00000418819.2:n.646+1355del
ENST00000494123.6:c.2142del ENSP00000419103.2:p.Asn714LysfsTer22
ENST00000497488.2:c.1254del ENSP00000418986.2:p.Asn418LysfsTer22
ENST00000618469.2:c.2142del ENSP00000478114.2:p.Asn714LysfsTer22
ENST00000634433.2:c.2019del ENSP00000489431.2:p.Asn673LysfsTer22
ENST00000644379.2:c.2142del ENSP00000496570.2:p.Asn714LysfsTer22
ENST00000644555.2:c.646+1355del ENSP00000494614.2:n.646+1355del
ENST00000652672.2:c.2001del ENSP00000498906.2:p.Asn667LysfsTer22
ENST00000484087.6:c.664+1355del ENSP00000419481.2:n.664+1355del
ENST00000700182.1:c.706+1355del ENSP00000514849.1:n.706+1355del
ENST00000357654.9:c.2142del MANE Select ENSP00000350283.3:p.Asn714LysfsTer22
ENST00000471181.7:c.2142del ENSP00000418960.2:p.Asn714LysfsTer22
ENST00000352993.7:c.671-2357del ENSP00000312236.5:n.671-2357del
ENST00000354071.7:c.2142del ENSP00000326002.7:p.Asn714LysfsTer22
ENST00000357654.7:c.2142del ENSP00000350283.3:p.Asn714LysfsTer22
ENST00000461221.5:c.*1925del ENSP00000418548.1:n.*1925del
ENST00000468300.5:c.787+1355del ENSP00000417148.1:n.787+1355del
ENST00000471181.6:c.2142del ENSP00000418960.2:p.Asn714LysfsTer22
ENST00000478531.5:c.784+1355del ENSP00000420412.1:n.784+1355del
ENST00000484087.5:c.409+1355del ENSP00000419481.1:n.409+1355del
ENST00000487825.5:c.412+1355del ENSP00000418212.1:n.412+1355del
ENST00000491747.6:c.787+1355del ENSP00000420705.2:n.787+1355del
ENST00000493795.5:c.2001del ENSP00000418775.1:p.Asn667LysfsTer22
ENST00000493919.5:c.646+1355del ENSP00000418819.1:n.646+1355del
ENST00000586385.5:c.5-29438del ENSP00000465818.1:n.5-29438del
ENST00000591534.5:c.-43-18868del ENSP00000467329.1:n.-43-18868del
ENST00000591849.5:c.-99+31882del ENSP00000465347.1:n.-99+31882del
ENST00000634433.1:c.2019del ENSP00000489431.1:p.Asn673LysfsTer22
NM_007294.3:c.2142del , LRG_292t1:c.2142del NP_009225.1:p.Asn714LysfsTer22
NM_007297.3:c.2001del NP_009228.2:p.Asn667LysfsTer22
NM_007298.3:c.787+1355del NP_009229.2:n.787+1355del
NM_007299.3:c.787+1355del NP_009230.2:n.787+1355del
NM_007300.3:c.2142del NP_009231.2:p.Asn714LysfsTer22
NR_027676.1:n.2278del
NM_007294.4:c.2142del MANE Select NP_009225.1:p.Asn714LysfsTer22
NM_007297.4:c.2001del NP_009228.2:p.Asn667LysfsTer22
NM_007299.4:c.787+1355del NP_009230.2:n.787+1355del
NM_007300.4:c.2142del NP_009231.2:p.Asn714LysfsTer22
NR_027676.2:n.2319del