Canonical Allele Identifier: CA10580673
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 233760
dbSNP Id: rs876660623

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094279del , CM000679.2:g.43094279del GRCh38
NC_000017.10:g.41246296del , CM000679.1:g.41246296del GRCh37
NC_000017.9:g.38499822del NCBI36
NG_005905.2:g.123705del , LRG_292:g.123705del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1316del
ENST00000461574.2:c.1252del ENSP00000417241.2:p.Glu418ArgfsTer2
ENST00000470026.6:c.1252del ENSP00000419274.2:p.Glu418ArgfsTer2
ENST00000473961.6:c.1126del ENSP00000420201.2:p.Glu376ArgfsTer2
ENST00000476777.6:c.1249del ENSP00000417554.2:p.Glu417ArgfsTer2
ENST00000477152.6:c.1174del ENSP00000419988.2:p.Glu392ArgfsTer2
ENST00000478531.6:c.784+465del ENSP00000420412.2:n.784+465del
ENST00000489037.2:c.1174del ENSP00000420781.2:p.Glu392ArgfsTer2
ENST00000493919.6:c.646+465del ENSP00000418819.2:n.646+465del
ENST00000494123.6:c.1252del ENSP00000419103.2:p.Glu418ArgfsTer2
ENST00000497488.2:c.364del ENSP00000418986.2:p.Glu122ArgfsTer2
ENST00000618469.2:c.1252del ENSP00000478114.2:p.Glu418ArgfsTer2
ENST00000634433.2:c.1129del ENSP00000489431.2:p.Glu377ArgfsTer2
ENST00000644379.2:c.1252del ENSP00000496570.2:p.Glu418ArgfsTer2
ENST00000644555.2:c.646+465del ENSP00000494614.2:n.646+465del
ENST00000652672.2:c.1111del ENSP00000498906.2:p.Glu371ArgfsTer2
ENST00000484087.6:c.664+465del ENSP00000419481.2:n.664+465del
ENST00000700182.1:c.706+465del ENSP00000514849.1:n.706+465del
ENST00000700183.1:c.*1260del ENSP00000514850.1:n.*1260del
ENST00000357654.9:c.1252del MANE Select ENSP00000350283.3:p.Glu418ArgfsTer2
ENST00000471181.7:c.1252del ENSP00000418960.2:p.Glu418ArgfsTer2
ENST00000652672.1:c.1111del ENSP00000498906.1:p.Glu371ArgfsTer2
ENST00000352993.7:c.670+1567del ENSP00000312236.5:n.670+1567del
ENST00000354071.7:c.1252del ENSP00000326002.7:p.Glu418ArgfsTer2
ENST00000357654.7:c.1252del ENSP00000350283.3:p.Glu418ArgfsTer2
ENST00000412061.3:c.603del
ENST00000461221.5:c.*1035del ENSP00000418548.1:n.*1035del
ENST00000468300.5:c.787+465del ENSP00000417148.1:n.787+465del
ENST00000470026.5:c.1252del ENSP00000419274.1:p.Glu418ArgfsTer2
ENST00000471181.6:c.1252del ENSP00000418960.2:p.Glu418ArgfsTer2
ENST00000473961.5:c.849del
ENST00000477152.5:c.1174del ENSP00000419988.1:p.Glu392ArgfsTer2
ENST00000478531.5:c.784+465del ENSP00000420412.1:n.784+465del
ENST00000484087.5:c.409+465del ENSP00000419481.1:n.409+465del
ENST00000487825.5:c.412+465del ENSP00000418212.1:n.412+465del
ENST00000491747.6:c.787+465del ENSP00000420705.2:n.787+465del
ENST00000492859.5:c.*1188del ENSP00000420253.1:n.*1188del
ENST00000493795.5:c.1111del ENSP00000418775.1:p.Glu371ArgfsTer2
ENST00000493919.5:c.646+465del ENSP00000418819.1:n.646+465del
ENST00000494123.5:c.1252del ENSP00000419103.1:p.Glu418ArgfsTer2
ENST00000497488.1:c.364del ENSP00000418986.1:p.Glu122ArgfsTer2
ENST00000586385.5:c.5-30328del ENSP00000465818.1:n.5-30328del
ENST00000591534.5:c.-43-19758del ENSP00000467329.1:n.-43-19758del
ENST00000591849.5:c.-99+30992del ENSP00000465347.1:n.-99+30992del
ENST00000634433.1:c.1129del ENSP00000489431.1:p.Glu377ArgfsTer2
NM_007294.3:c.1252del , LRG_292t1:c.1252del NP_009225.1:p.Glu418ArgfsTer2
NM_007297.3:c.1111del NP_009228.2:p.Glu371ArgfsTer2
NM_007298.3:c.787+465del NP_009229.2:n.787+465del
NM_007299.3:c.787+465del NP_009230.2:n.787+465del
NM_007300.3:c.1252del NP_009231.2:p.Glu418ArgfsTer2
NR_027676.1:n.1388del
NM_007294.4:c.1252del MANE Select NP_009225.1:p.Glu418ArgfsTer2
NM_007297.4:c.1111del NP_009228.2:p.Glu371ArgfsTer2
NM_007299.4:c.787+465del NP_009230.2:n.787+465del
NM_007300.4:c.1252del NP_009231.2:p.Glu418ArgfsTer2
NR_027676.2:n.1429del