Canonical Allele Identifier: CA2260784298
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093760_43093763delinsTACT , CM000679.2:g.43093760_43093763delinsTACT GRCh38
NC_000017.10:g.41245777_41245780delinsTACT , CM000679.1:g.41245777_41245780delinsTACT GRCh37
NC_000017.9:g.38499303_38499306delinsTACT NCBI36
NG_005905.2:g.124221_124224delinsAGTA , LRG_292:g.124221_124224delinsAGTA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1832_1835delinsAGTA
ENST00000461574.2:c.1768_1771delinsAGTA ENSP00000417241.2:p.Ser590=
ENST00000470026.6:c.1768_1771delinsAGTA ENSP00000419274.2:p.Ser590=
ENST00000473961.6:c.1642_1645delinsAGTA ENSP00000420201.2:p.Ser548=
ENST00000476777.6:c.1765_1768delinsAGTA ENSP00000417554.2:p.Ser589=
ENST00000477152.6:c.1690_1693delinsAGTA ENSP00000419988.2:p.Ser564=
ENST00000478531.6:c.784+981_784+984delinsAGTA ENSP00000420412.2:n.784+981_784+984delins...
ENST00000489037.2:c.1690_1693delinsAGTA ENSP00000420781.2:p.Ser564=
ENST00000493919.6:c.646+981_646+984delinsAGTA ENSP00000418819.2:n.646+981_646+984delins...
ENST00000494123.6:c.1768_1771delinsAGTA ENSP00000419103.2:p.Ser590=
ENST00000497488.2:c.880_883delinsAGTA ENSP00000418986.2:p.Ser294=
ENST00000618469.2:c.1768_1771delinsAGTA ENSP00000478114.2:p.Ser590=
ENST00000634433.2:c.1645_1648delinsAGTA ENSP00000489431.2:p.Ser549=
ENST00000644379.2:c.1768_1771delinsAGTA ENSP00000496570.2:p.Ser590=
ENST00000644555.2:c.646+981_646+984delinsAGTA ENSP00000494614.2:n.646+981_646+984delins...
ENST00000652672.2:c.1627_1630delinsAGTA ENSP00000498906.2:p.Ser543=
ENST00000484087.6:c.664+981_664+984delinsAGTA ENSP00000419481.2:n.664+981_664+984delins...
ENST00000700182.1:c.706+981_706+984delinsAGTA ENSP00000514849.1:n.706+981_706+984delins...
ENST00000357654.9:c.1768_1771delinsAGTA MANE Select ENSP00000350283.3:p.Ser590=
ENST00000471181.7:c.1768_1771delinsAGTA ENSP00000418960.2:p.Ser590=
ENST00000652672.1:c.1627_1630delinsAGTA ENSP00000498906.1:p.Ser543=
ENST00000352993.7:c.670+2083_670+2086delinsAGTA ENSP00000312236.5:n.670+2083_670+2086deli...
ENST00000354071.7:c.1768_1771delinsAGTA ENSP00000326002.7:p.Ser590=
ENST00000357654.7:c.1768_1771delinsAGTA ENSP00000350283.3:p.Ser590=
ENST00000412061.3:c.1119_1122delinsAGTA
ENST00000461221.5:c.*1551_*1554delinsAGTA ENSP00000418548.1:n.*1551_*1554delinsAGTA...
ENST00000468300.5:c.787+981_787+984delinsAGTA ENSP00000417148.1:n.787+981_787+984delins...
ENST00000470026.5:c.1768_1771delinsAGTA ENSP00000419274.1:p.Ser590=
ENST00000471181.6:c.1768_1771delinsAGTA ENSP00000418960.2:p.Ser590=
ENST00000477152.5:c.1690_1693delinsAGTA ENSP00000419988.1:p.Ser564=
ENST00000478531.5:c.784+981_784+984delinsAGTA ENSP00000420412.1:n.784+981_784+984delins...
ENST00000484087.5:c.409+981_409+984delinsAGTA ENSP00000419481.1:n.409+981_409+984delins...
ENST00000487825.5:c.412+981_412+984delinsAGTA ENSP00000418212.1:n.412+981_412+984delins...
ENST00000491747.6:c.787+981_787+984delinsAGTA ENSP00000420705.2:n.787+981_787+984delins...
ENST00000493795.5:c.1627_1630delinsAGTA ENSP00000418775.1:p.Ser543=
ENST00000493919.5:c.646+981_646+984delinsAGTA ENSP00000418819.1:n.646+981_646+984delins...
ENST00000586385.5:c.5-29812_5-29809delinsAGTA ENSP00000465818.1:n.5-29812_5-29809delins...
ENST00000591534.5:c.-43-19242_-43-19239delinsAGTA ENSP00000467329.1:n.-43-19242_-43-19239de...
ENST00000591849.5:c.-99+31508_-99+31511delinsAGTA ENSP00000465347.1:n.-99+31508_-99+31511de...
ENST00000634433.1:c.1645_1648delinsAGTA ENSP00000489431.1:p.Ser549=
NM_007294.3:c.1768_1771delinsAGTA , LRG_292t1:c.1768_1771delinsAGTA NP_009225.1:p.Ser590=
NM_007297.3:c.1627_1630delinsAGTA NP_009228.2:p.Ser543=
NM_007298.3:c.787+981_787+984delinsAGTA NP_009229.2:n.787+981_787+984delinsAGTA
NM_007299.3:c.787+981_787+984delinsAGTA NP_009230.2:n.787+981_787+984delinsAGTA
NM_007300.3:c.1768_1771delinsAGTA NP_009231.2:p.Ser590=
NR_027676.1:n.1904_1907delinsAGTA
NM_007294.4:c.1768_1771delinsAGTA MANE Select NP_009225.1:p.Ser590=
NM_007297.4:c.1627_1630delinsAGTA NP_009228.2:p.Ser543=
NM_007299.4:c.787+981_787+984delinsAGTA NP_009230.2:n.787+981_787+984delinsAGTA
NM_007300.4:c.1768_1771delinsAGTA NP_009231.2:p.Ser590=
NR_027676.2:n.1945_1948delinsAGTA