Canonical Allele Identifier: CA2260784854
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094364_43094365delinsAC , CM000679.2:g.43094364_43094365delinsAC GRCh38
NC_000017.10:g.41246381_41246382delinsAC , CM000679.1:g.41246381_41246382delinsAC GRCh37
NC_000017.9:g.38499907_38499908delinsAC NCBI36
NG_005905.2:g.123619_123620delinsGT , LRG_292:g.123619_123620delinsGT

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1230_1231delinsGT
ENST00000461574.2:c.1166_1167delinsGT ENSP00000417241.2:p.Ser389=
ENST00000470026.6:c.1166_1167delinsGT ENSP00000419274.2:p.Ser389=
ENST00000473961.6:c.1040_1041delinsGT ENSP00000420201.2:p.Ser347=
ENST00000476777.6:c.1163_1164delinsGT ENSP00000417554.2:p.Ser388=
ENST00000477152.6:c.1088_1089delinsGT ENSP00000419988.2:p.Ser363=
ENST00000478531.6:c.784+379_784+380delinsGT ENSP00000420412.2:n.784+379_784+380delins...
ENST00000489037.2:c.1088_1089delinsGT ENSP00000420781.2:p.Ser363=
ENST00000493919.6:c.646+379_646+380delinsGT ENSP00000418819.2:n.646+379_646+380delins...
ENST00000494123.6:c.1166_1167delinsGT ENSP00000419103.2:p.Ser389=
ENST00000497488.2:c.278_279delinsGT ENSP00000418986.2:p.Ser93=
ENST00000618469.2:c.1166_1167delinsGT ENSP00000478114.2:p.Ser389=
ENST00000634433.2:c.1043_1044delinsGT ENSP00000489431.2:p.Ser348=
ENST00000644379.2:c.1166_1167delinsGT ENSP00000496570.2:p.Ser389=
ENST00000644555.2:c.646+379_646+380delinsGT ENSP00000494614.2:n.646+379_646+380delins...
ENST00000652672.2:c.1025_1026delinsGT ENSP00000498906.2:p.Ser342=
ENST00000484087.6:c.664+379_664+380delinsGT ENSP00000419481.2:n.664+379_664+380delins...
ENST00000700182.1:c.706+379_706+380delinsGT ENSP00000514849.1:n.706+379_706+380delins...
ENST00000700183.1:c.*1174_*1175delinsGT ENSP00000514850.1:n.*1174_*1175delinsGT
ENST00000357654.9:c.1166_1167delinsGT MANE Select ENSP00000350283.3:p.Ser389=
ENST00000471181.7:c.1166_1167delinsGT ENSP00000418960.2:p.Ser389=
ENST00000652672.1:c.1025_1026delinsGT ENSP00000498906.1:p.Ser342=
ENST00000352993.7:c.670+1481_670+1482delinsGT ENSP00000312236.5:n.670+1481_670+1482deli...
ENST00000354071.7:c.1166_1167delinsGT ENSP00000326002.7:p.Ser389=
ENST00000357654.7:c.1166_1167delinsGT ENSP00000350283.3:p.Ser389=
ENST00000412061.3:c.517_518delinsGT
ENST00000461221.5:c.*949_*950delinsGT ENSP00000418548.1:n.*949_*950delinsGT
ENST00000468300.5:c.787+379_787+380delinsGT ENSP00000417148.1:n.787+379_787+380delins...
ENST00000470026.5:c.1166_1167delinsGT ENSP00000419274.1:p.Ser389=
ENST00000471181.6:c.1166_1167delinsGT ENSP00000418960.2:p.Ser389=
ENST00000473961.5:c.763_764delinsGT
ENST00000477152.5:c.1088_1089delinsGT ENSP00000419988.1:p.Ser363=
ENST00000478531.5:c.784+379_784+380delinsGT ENSP00000420412.1:n.784+379_784+380delins...
ENST00000484087.5:c.409+379_409+380delinsGT ENSP00000419481.1:n.409+379_409+380delins...
ENST00000487825.5:c.412+379_412+380delinsGT ENSP00000418212.1:n.412+379_412+380delins...
ENST00000491747.6:c.787+379_787+380delinsGT ENSP00000420705.2:n.787+379_787+380delins...
ENST00000492859.5:c.*1102_*1103delinsGT ENSP00000420253.1:n.*1102_*1103delinsGT
ENST00000493795.5:c.1025_1026delinsGT ENSP00000418775.1:p.Ser342=
ENST00000493919.5:c.646+379_646+380delinsGT ENSP00000418819.1:n.646+379_646+380delins...
ENST00000494123.5:c.1166_1167delinsGT ENSP00000419103.1:p.Ser389=
ENST00000497488.1:c.278_279delinsGT ENSP00000418986.1:p.Ser93=
ENST00000586385.5:c.5-30414_5-30413delinsGT ENSP00000465818.1:n.5-30414_5-30413delins...
ENST00000591534.5:c.-43-19844_-43-19843delinsGT ENSP00000467329.1:n.-43-19844_-43-19843de...
ENST00000591849.5:c.-99+30906_-99+30907delinsGT ENSP00000465347.1:n.-99+30906_-99+30907de...
ENST00000634433.1:c.1043_1044delinsGT ENSP00000489431.1:p.Ser348=
NM_007294.3:c.1166_1167delinsGT , LRG_292t1:c.1166_1167delinsGT NP_009225.1:p.Ser389=
NM_007297.3:c.1025_1026delinsGT NP_009228.2:p.Ser342=
NM_007298.3:c.787+379_787+380delinsGT NP_009229.2:n.787+379_787+380delinsGT
NM_007299.3:c.787+379_787+380delinsGT NP_009230.2:n.787+379_787+380delinsGT
NM_007300.3:c.1166_1167delinsGT NP_009231.2:p.Ser389=
NR_027676.1:n.1302_1303delinsGT
NM_007294.4:c.1166_1167delinsGT MANE Select NP_009225.1:p.Ser389=
NM_007297.4:c.1025_1026delinsGT NP_009228.2:p.Ser342=
NM_007299.4:c.787+379_787+380delinsGT NP_009230.2:n.787+379_787+380delinsGT
NM_007300.4:c.1166_1167delinsGT NP_009231.2:p.Ser389=
NR_027676.2:n.1343_1344delinsGT