Canonical Allele Identifier: CA2830850679
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091435_43093435delinsAA , CM000679.2:g.43091435_43093435delinsAA GRCh38
NC_000017.10:g.41243452_41245452delinsAA , CM000679.1:g.41243452_41245452delinsAA GRCh37
NC_000017.9:g.38496978_38498978delinsAA NCBI36
NG_005905.2:g.124549_126549delinsTT , LRG_292:g.124549_126549delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2160_4160delinsTT
ENST00000461574.2:c.2096_4096delinsTT ENSP00000417241.2:p.Glu699ValfsTer28
ENST00000470026.6:c.2096_4096delinsTT ENSP00000419274.2:p.Glu699ValfsTer28
ENST00000473961.6:c.1970_3970delinsTT ENSP00000420201.2:p.Glu657ValfsTer28
ENST00000476777.6:c.2093_4093delinsTT ENSP00000417554.2:p.Glu698ValfsTer28
ENST00000477152.6:c.2018_4018delinsTT ENSP00000419988.2:p.Glu673ValfsTer28
ENST00000478531.6:c.784+1309_785-403delinsTT ENSP00000420412.2:n.784+1309_785-403delinsTT
ENST00000489037.2:c.2018_4018delinsTT ENSP00000420781.2:p.Glu673ValfsTer28
ENST00000493919.6:c.646+1309_647-403delinsTT ENSP00000418819.2:n.646+1309_647-403delinsTT
ENST00000494123.6:c.2096_4096delinsTT ENSP00000419103.2:p.Glu699ValfsTer28
ENST00000497488.2:c.1208_3208delinsTT ENSP00000418986.2:p.Glu403ValfsTer28
ENST00000618469.2:c.2096_4096delinsTT ENSP00000478114.2:p.Glu699ValfsTer28
ENST00000634433.2:c.1973_3973delinsTT ENSP00000489431.2:p.Glu658ValfsTer28
ENST00000644379.2:c.2096_4096delinsTT ENSP00000496570.2:p.Glu699ValfsTer28
ENST00000644555.2:c.646+1309_647-403delinsTT ENSP00000494614.2:n.646+1309_647-403delinsTT
ENST00000652672.2:c.1955_3955delinsTT ENSP00000498906.2:p.Glu652ValfsTer28
ENST00000484087.6:c.664+1309_665-403delinsTT ENSP00000419481.2:n.664+1309_665-403delinsTT
ENST00000700182.1:c.706+1309_707-403delinsTT ENSP00000514849.1:n.706+1309_707-403delinsTT
ENST00000357654.9:c.2096_4096delinsTT MANE Select ENSP00000350283.3:p.Glu699ValfsTer28
ENST00000471181.7:c.2096_4096delinsTT ENSP00000418960.2:p.Glu699ValfsTer28
ENST00000352993.7:c.671-2403_671-403delinsTT ENSP00000312236.5:n.671-2403_671-403delinsTT
ENST00000354071.7:c.2096_4096delinsTT ENSP00000326002.7:p.Glu699ValfsTer19
ENST00000357654.7:c.2096_4096delinsTT ENSP00000350283.3:p.Glu699ValfsTer28
ENST00000461221.5:c.*1879_*3879delinsTT ENSP00000418548.1:n.*1879_*3879delinsTT
ENST00000468300.5:c.787+1309_788-403delinsTT ENSP00000417148.1:n.787+1309_788-403delinsTT
ENST00000471181.6:c.2096_4096delinsTT ENSP00000418960.2:p.Glu699ValfsTer28
ENST00000478531.5:c.784+1309_785-403delinsTT ENSP00000420412.1:n.784+1309_785-403delinsTT
ENST00000484087.5:c.409+1309_410-403delinsTT ENSP00000419481.1:n.409+1309_410-403delinsTT
ENST00000487825.5:c.412+1309_413-403delinsTT ENSP00000418212.1:n.412+1309_413-403delinsTT
ENST00000491747.6:c.787+1309_788-403delinsTT ENSP00000420705.2:n.787+1309_788-403delinsTT
ENST00000493795.5:c.1955_3955delinsTT ENSP00000418775.1:p.Glu652ValfsTer28
ENST00000493919.5:c.646+1309_647-403delinsTT ENSP00000418819.1:n.646+1309_647-403delinsTT
ENST00000586385.5:c.5-29484_5-27484delinsTT ENSP00000465818.1:n.5-29484_5-27484delinsTT
ENST00000591534.5:c.-43-18914_-43-16914delinsTT ENSP00000467329.1:n.-43-18914_-43-16914delinsTT
ENST00000591849.5:c.-99+31836_-99+33836delinsTT ENSP00000465347.1:n.-99+31836_-99+33836delinsTT
NM_007294.3:c.2096_4096delinsTT , LRG_292t1:c.2096_4096delinsTT NP_009225.1:p.Glu699ValfsTer28
NM_007297.3:c.1955_3955delinsTT NP_009228.2:p.Glu652ValfsTer28
NM_007298.3:c.787+1309_788-403delinsTT NP_009229.2:n.787+1309_788-403delinsTT
NM_007299.3:c.787+1309_788-403delinsTT NP_009230.2:n.787+1309_788-403delinsTT
NM_007300.3:c.2096_4096delinsTT NP_009231.2:p.Glu699ValfsTer28
NR_027676.1:n.2232_4232delinsTT
NM_007294.4:c.2096_4096delinsTT MANE Select NP_009225.1:p.Glu699ValfsTer28
NM_007297.4:c.1955_3955delinsTT NP_009228.2:p.Glu652ValfsTer28
NM_007299.4:c.787+1309_788-403delinsTT NP_009230.2:n.787+1309_788-403delinsTT
NM_007300.4:c.2096_4096delinsTT NP_009231.2:p.Glu699ValfsTer28
NR_027676.2:n.2273_4273delinsTT