Canonical Allele Identifier: CA2260784239
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093699_43093700delinsAG , CM000679.2:g.43093699_43093700delinsAG GRCh38
NC_000017.10:g.41245716_41245717delinsAG , CM000679.1:g.41245716_41245717delinsAG GRCh37
NC_000017.9:g.38499242_38499243delinsAG NCBI36
NG_005905.2:g.124284_124285delinsCT , LRG_292:g.124284_124285delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1895_1896delinsCT
ENST00000461574.2:c.1831_1832delinsCT ENSP00000417241.2:p.Leu611=
ENST00000470026.6:c.1831_1832delinsCT ENSP00000419274.2:p.Leu611=
ENST00000473961.6:c.1705_1706delinsCT ENSP00000420201.2:p.Leu569=
ENST00000476777.6:c.1828_1829delinsCT ENSP00000417554.2:p.Leu610=
ENST00000477152.6:c.1753_1754delinsCT ENSP00000419988.2:p.Leu585=
ENST00000478531.6:c.784+1044_784+1045delinsCT ENSP00000420412.2:n.784+1044_784+1045delinsCT
ENST00000489037.2:c.1753_1754delinsCT ENSP00000420781.2:p.Leu585=
ENST00000493919.6:c.646+1044_646+1045delinsCT ENSP00000418819.2:n.646+1044_646+1045delinsCT
ENST00000494123.6:c.1831_1832delinsCT ENSP00000419103.2:p.Leu611=
ENST00000497488.2:c.943_944delinsCT ENSP00000418986.2:p.Leu315=
ENST00000618469.2:c.1831_1832delinsCT ENSP00000478114.2:p.Leu611=
ENST00000634433.2:c.1708_1709delinsCT ENSP00000489431.2:p.Leu570=
ENST00000644379.2:c.1831_1832delinsCT ENSP00000496570.2:p.Leu611=
ENST00000644555.2:c.646+1044_646+1045delinsCT ENSP00000494614.2:n.646+1044_646+1045delinsCT
ENST00000652672.2:c.1690_1691delinsCT ENSP00000498906.2:p.Leu564=
ENST00000484087.6:c.664+1044_664+1045delinsCT ENSP00000419481.2:n.664+1044_664+1045delinsCT
ENST00000700182.1:c.706+1044_706+1045delinsCT ENSP00000514849.1:n.706+1044_706+1045delinsCT
ENST00000357654.9:c.1831_1832delinsCT MANE Select ENSP00000350283.3:p.Leu611=
ENST00000471181.7:c.1831_1832delinsCT ENSP00000418960.2:p.Leu611=
ENST00000652672.1:c.1690_1691delinsCT ENSP00000498906.1:p.Leu564=
ENST00000352993.7:c.670+2146_670+2147delinsCT ENSP00000312236.5:n.670+2146_670+2147delinsCT
ENST00000354071.7:c.1831_1832delinsCT ENSP00000326002.7:p.Leu611=
ENST00000357654.7:c.1831_1832delinsCT ENSP00000350283.3:p.Leu611=
ENST00000412061.3:c.1182_1183delinsCT
ENST00000461221.5:c.*1614_*1615delinsCT ENSP00000418548.1:n.*1614_*1615delinsCT
ENST00000468300.5:c.787+1044_787+1045delinsCT ENSP00000417148.1:n.787+1044_787+1045delinsCT
ENST00000470026.5:c.1831_1832delinsCT ENSP00000419274.1:p.Leu611=
ENST00000471181.6:c.1831_1832delinsCT ENSP00000418960.2:p.Leu611=
ENST00000477152.5:c.1753_1754delinsCT ENSP00000419988.1:p.Leu585=
ENST00000478531.5:c.784+1044_784+1045delinsCT ENSP00000420412.1:n.784+1044_784+1045delinsCT
ENST00000484087.5:c.409+1044_409+1045delinsCT ENSP00000419481.1:n.409+1044_409+1045delinsCT
ENST00000487825.5:c.412+1044_412+1045delinsCT ENSP00000418212.1:n.412+1044_412+1045delinsCT
ENST00000491747.6:c.787+1044_787+1045delinsCT ENSP00000420705.2:n.787+1044_787+1045delinsCT
ENST00000493795.5:c.1690_1691delinsCT ENSP00000418775.1:p.Leu564=
ENST00000493919.5:c.646+1044_646+1045delinsCT ENSP00000418819.1:n.646+1044_646+1045delinsCT
ENST00000586385.5:c.5-29749_5-29748delinsCT ENSP00000465818.1:n.5-29749_5-29748delinsCT
ENST00000591534.5:c.-43-19179_-43-19178delinsCT ENSP00000467329.1:n.-43-19179_-43-19178delinsCT
ENST00000591849.5:c.-99+31571_-99+31572delinsCT ENSP00000465347.1:n.-99+31571_-99+31572delinsCT
ENST00000634433.1:c.1708_1709delinsCT ENSP00000489431.1:p.Leu570=
NM_007294.3:c.1831_1832delinsCT , LRG_292t1:c.1831_1832delinsCT NP_009225.1:p.Leu611=
NM_007297.3:c.1690_1691delinsCT NP_009228.2:p.Leu564=
NM_007298.3:c.787+1044_787+1045delinsCT NP_009229.2:n.787+1044_787+1045delinsCT
NM_007299.3:c.787+1044_787+1045delinsCT NP_009230.2:n.787+1044_787+1045delinsCT
NM_007300.3:c.1831_1832delinsCT NP_009231.2:p.Leu611=
NR_027676.1:n.1967_1968delinsCT
NM_007294.4:c.1831_1832delinsCT MANE Select NP_009225.1:p.Leu611=
NM_007297.4:c.1690_1691delinsCT NP_009228.2:p.Leu564=
NM_007299.4:c.787+1044_787+1045delinsCT NP_009230.2:n.787+1044_787+1045delinsCT
NM_007300.4:c.1831_1832delinsCT NP_009231.2:p.Leu611=
NR_027676.2:n.2008_2009delinsCT