Canonical Allele Identifier: CA2260784195
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093655_43093656delinsCT , CM000679.2:g.43093655_43093656delinsCT GRCh38
NC_000017.10:g.41245672_41245673delinsCT , CM000679.1:g.41245672_41245673delinsCT GRCh37
NC_000017.9:g.38499198_38499199delinsCT NCBI36
NG_005905.2:g.124328_124329delinsAG , LRG_292:g.124328_124329delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1939_1940delinsAG
ENST00000461574.2:c.1875_1876delinsAG ENSP00000417241.2:p.Leu625=
ENST00000470026.6:c.1875_1876delinsAG ENSP00000419274.2:p.Leu625=
ENST00000473961.6:c.1749_1750delinsAG ENSP00000420201.2:p.Leu583=
ENST00000476777.6:c.1872_1873delinsAG ENSP00000417554.2:p.Leu624=
ENST00000477152.6:c.1797_1798delinsAG ENSP00000419988.2:p.Leu599=
ENST00000478531.6:c.784+1088_784+1089delinsAG ENSP00000420412.2:n.784+1088_784+1089delinsAG
ENST00000489037.2:c.1797_1798delinsAG ENSP00000420781.2:p.Leu599=
ENST00000493919.6:c.646+1088_646+1089delinsAG ENSP00000418819.2:n.646+1088_646+1089delinsAG
ENST00000494123.6:c.1875_1876delinsAG ENSP00000419103.2:p.Leu625=
ENST00000497488.2:c.987_988delinsAG ENSP00000418986.2:p.Leu329=
ENST00000618469.2:c.1875_1876delinsAG ENSP00000478114.2:p.Leu625=
ENST00000634433.2:c.1752_1753delinsAG ENSP00000489431.2:p.Leu584=
ENST00000644379.2:c.1875_1876delinsAG ENSP00000496570.2:p.Leu625=
ENST00000644555.2:c.646+1088_646+1089delinsAG ENSP00000494614.2:n.646+1088_646+1089delinsAG
ENST00000652672.2:c.1734_1735delinsAG ENSP00000498906.2:p.Leu578=
ENST00000484087.6:c.664+1088_664+1089delinsAG ENSP00000419481.2:n.664+1088_664+1089delinsAG
ENST00000700182.1:c.706+1088_706+1089delinsAG ENSP00000514849.1:n.706+1088_706+1089delinsAG
ENST00000357654.9:c.1875_1876delinsAG MANE Select ENSP00000350283.3:p.Leu625=
ENST00000471181.7:c.1875_1876delinsAG ENSP00000418960.2:p.Leu625=
ENST00000652672.1:c.1734_1735delinsAG ENSP00000498906.1:p.Leu578=
ENST00000352993.7:c.670+2190_670+2191delinsAG ENSP00000312236.5:n.670+2190_670+2191delinsAG
ENST00000354071.7:c.1875_1876delinsAG ENSP00000326002.7:p.Leu625=
ENST00000357654.7:c.1875_1876delinsAG ENSP00000350283.3:p.Leu625=
ENST00000412061.3:c.1226_1227delinsAG
ENST00000461221.5:c.*1658_*1659delinsAG ENSP00000418548.1:n.*1658_*1659delinsAG
ENST00000468300.5:c.787+1088_787+1089delinsAG ENSP00000417148.1:n.787+1088_787+1089delinsAG
ENST00000470026.5:c.1875_1876delinsAG ENSP00000419274.1:p.Leu625=
ENST00000471181.6:c.1875_1876delinsAG ENSP00000418960.2:p.Leu625=
ENST00000477152.5:c.1797_1798delinsAG ENSP00000419988.1:p.Leu599=
ENST00000478531.5:c.784+1088_784+1089delinsAG ENSP00000420412.1:n.784+1088_784+1089delinsAG
ENST00000484087.5:c.409+1088_409+1089delinsAG ENSP00000419481.1:n.409+1088_409+1089delinsAG
ENST00000487825.5:c.412+1088_412+1089delinsAG ENSP00000418212.1:n.412+1088_412+1089delinsAG
ENST00000491747.6:c.787+1088_787+1089delinsAG ENSP00000420705.2:n.787+1088_787+1089delinsAG
ENST00000493795.5:c.1734_1735delinsAG ENSP00000418775.1:p.Leu578=
ENST00000493919.5:c.646+1088_646+1089delinsAG ENSP00000418819.1:n.646+1088_646+1089delinsAG
ENST00000586385.5:c.5-29705_5-29704delinsAG ENSP00000465818.1:n.5-29705_5-29704delinsAG
ENST00000591534.5:c.-43-19135_-43-19134delinsAG ENSP00000467329.1:n.-43-19135_-43-19134delinsAG
ENST00000591849.5:c.-99+31615_-99+31616delinsAG ENSP00000465347.1:n.-99+31615_-99+31616delinsAG
ENST00000634433.1:c.1752_1753delinsAG ENSP00000489431.1:p.Leu584=
NM_007294.3:c.1875_1876delinsAG , LRG_292t1:c.1875_1876delinsAG NP_009225.1:p.Leu625=
NM_007297.3:c.1734_1735delinsAG NP_009228.2:p.Leu578=
NM_007298.3:c.787+1088_787+1089delinsAG NP_009229.2:n.787+1088_787+1089delinsAG
NM_007299.3:c.787+1088_787+1089delinsAG NP_009230.2:n.787+1088_787+1089delinsAG
NM_007300.3:c.1875_1876delinsAG NP_009231.2:p.Leu625=
NR_027676.1:n.2011_2012delinsAG
NM_007294.4:c.1875_1876delinsAG MANE Select NP_009225.1:p.Leu625=
NM_007297.4:c.1734_1735delinsAG NP_009228.2:p.Leu578=
NM_007299.4:c.787+1088_787+1089delinsAG NP_009230.2:n.787+1088_787+1089delinsAG
NM_007300.4:c.1875_1876delinsAG NP_009231.2:p.Leu625=
NR_027676.2:n.2052_2053delinsAG