Canonical Allele Identifier: CA2260769544
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43063919_43063920delinsAT , CM000679.2:g.43063919_43063920delinsAT GRCh38
NC_000017.10:g.41215936_41215937delinsAT , CM000679.1:g.41215936_41215937delinsAT GRCh37
NC_000017.9:g.38469462_38469463delinsAT NCBI36
NG_005905.2:g.154064_154065delinsAT , LRG_292:g.154064_154065delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000461574.2:c.5103_5104delinsAT ENSP00000417241.2:p.Lys1701=
ENST00000470026.6:c.5106_5107delinsAT ENSP00000419274.2:p.Lys1702=
ENST00000473961.6:c.4980_4981delinsAT ENSP00000420201.2:p.Lys1660=
ENST00000476777.6:c.5100_5101delinsAT ENSP00000417554.2:p.Lys1700=
ENST00000477152.6:c.5028_5029delinsAT ENSP00000419988.2:p.Lys1676=
ENST00000478531.6:c.1794_1795delinsAT ENSP00000420412.2:p.Lys598=
ENST00000489037.2:c.5028_5029delinsAT ENSP00000420781.2:p.Lys1676=
ENST00000493919.6:c.1656_1657delinsAT ENSP00000418819.2:p.Lys552=
ENST00000494123.6:c.5106_5107delinsAT ENSP00000419103.2:p.Lys1702=
ENST00000497488.2:c.4218_4219delinsAT ENSP00000418986.2:p.Lys1406=
ENST00000618469.2:c.5106_5107delinsAT ENSP00000478114.2:p.Lys1702=
ENST00000634433.2:c.4983_4984delinsAT ENSP00000489431.2:p.Lys1661=
ENST00000644379.2:c.5172_5173delinsAT ENSP00000496570.2:p.Lys1724=
ENST00000644555.2:c.1656_1657delinsAT ENSP00000494614.2:p.Lys552=
ENST00000652672.2:c.4965_4966delinsAT ENSP00000498906.2:p.Lys1655=
ENST00000484087.6:c.1668_1669delinsAT ENSP00000419481.2:p.Lys556=
ENST00000357654.9:c.5106_5107delinsAT MANE Select ENSP00000350283.3:p.Lys1702=
ENST00000471181.7:c.5169_5170delinsAT ENSP00000418960.2:p.Lys1723=
ENST00000644379.1:c.1493_1494delinsAT
ENST00000352993.7:c.1680_1681delinsAT ENSP00000312236.5:p.Lys560=
ENST00000357654.7:c.5106_5107delinsAT ENSP00000350283.3:p.Lys1702=
ENST00000461221.5:c.*4889_*4890delinsAT ENSP00000418548.1:n.*4889_*4890delinsAT
ENST00000468300.5:c.1794_1795delinsAT ENSP00000417148.1:p.Lys598=
ENST00000471181.6:c.5169_5170delinsAT ENSP00000418960.2:p.Lys1723=
ENST00000478531.5:c.1794_1795delinsAT ENSP00000420412.1:p.Lys598=
ENST00000484087.5:c.1419_1420delinsAT ENSP00000419481.1:p.Lys473=
ENST00000491747.6:c.1794_1795delinsAT ENSP00000420705.2:p.Lys598=
ENST00000493795.5:c.4965_4966delinsAT ENSP00000418775.1:p.Lys1655=
ENST00000493919.5:c.1656_1657delinsAT ENSP00000418819.1:p.Lys552=
ENST00000586385.5:c.36_37delinsAT ENSP00000465818.1:p.Lys12=
ENST00000591534.5:c.579_580delinsAT ENSP00000467329.1:p.Lys193=
ENST00000591849.5:c.-98-13730_-98-13729delinsAT ENSP00000465347.1:n.-98-13730_-98-13729delinsAT
NM_007294.3:c.5106_5107delinsAT , LRG_292t1:c.5106_5107delinsAT NP_009225.1:p.Lys1702=
NM_007297.3:c.4965_4966delinsAT NP_009228.2:p.Lys1655=
NM_007298.3:c.1794_1795delinsAT NP_009229.2:p.Lys598=
NM_007299.3:c.1794_1795delinsAT NP_009230.2:p.Lys598=
NM_007300.3:c.5169_5170delinsAT NP_009231.2:p.Lys1723=
NR_027676.1:n.5242_5243delinsAT
NM_007294.4:c.5106_5107delinsAT MANE Select NP_009225.1:p.Lys1702=
NM_007297.4:c.4965_4966delinsAT NP_009228.2:p.Lys1655=
NM_007299.4:c.1794_1795delinsAT NP_009230.2:p.Lys598=
NM_007300.4:c.5169_5170delinsAT NP_009231.2:p.Lys1723=
NR_027676.2:n.5283_5284delinsAT