Canonical Allele Identifier: CA645578311
Gene: BRCA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093828_43093829delinsAA , CM000679.2:g.43093828_43093829delinsAA GRCh38
NC_000017.10:g.41245845_41245846delinsAA , CM000679.1:g.41245845_41245846delinsAA GRCh37
NC_000017.9:g.38499371_38499372delinsAA NCBI36
NG_005905.2:g.124155_124156delinsTT , LRG_292:g.124155_124156delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.1766_1767delinsTT
ENST00000461574.2:c.1702_1703delinsTT ENSP00000417241.2:p.Pro568Phe
ENST00000470026.6:c.1702_1703delinsTT ENSP00000419274.2:p.Pro568Phe
ENST00000473961.6:c.1576_1577delinsTT ENSP00000420201.2:p.Pro526Phe
ENST00000476777.6:c.1699_1700delinsTT ENSP00000417554.2:p.Pro567Phe
ENST00000477152.6:c.1624_1625delinsTT ENSP00000419988.2:p.Pro542Phe
ENST00000478531.6:c.784+915_784+916delinsTT ENSP00000420412.2:n.784+915_784+916delinsTT
ENST00000489037.2:c.1624_1625delinsTT ENSP00000420781.2:p.Pro542Phe
ENST00000493919.6:c.646+915_646+916delinsTT ENSP00000418819.2:n.646+915_646+916delinsTT
ENST00000494123.6:c.1702_1703delinsTT ENSP00000419103.2:p.Pro568Phe
ENST00000497488.2:c.814_815delinsTT ENSP00000418986.2:p.Pro272Phe
ENST00000618469.2:c.1702_1703delinsTT ENSP00000478114.2:p.Pro568Phe
ENST00000634433.2:c.1579_1580delinsTT ENSP00000489431.2:p.Pro527Phe
ENST00000644379.2:c.1702_1703delinsTT ENSP00000496570.2:p.Pro568Phe
ENST00000644555.2:c.646+915_646+916delinsTT ENSP00000494614.2:n.646+915_646+916delinsTT
ENST00000652672.2:c.1561_1562delinsTT ENSP00000498906.2:p.Pro521Phe
ENST00000484087.6:c.664+915_664+916delinsTT ENSP00000419481.2:n.664+915_664+916delinsTT
ENST00000700182.1:c.706+915_706+916delinsTT ENSP00000514849.1:n.706+915_706+916delinsTT
ENST00000357654.9:c.1702_1703delinsTT MANE Select ENSP00000350283.3:p.Pro568Phe
ENST00000471181.7:c.1702_1703delinsTT ENSP00000418960.2:p.Pro568Phe
ENST00000652672.1:c.1561_1562delinsTT ENSP00000498906.1:p.Pro521Phe
ENST00000352993.7:c.670+2017_670+2018delinsTT ENSP00000312236.5:n.670+2017_670+2018delinsTT
ENST00000354071.7:c.1702_1703delinsTT ENSP00000326002.7:p.Pro568Phe
ENST00000357654.7:c.1702_1703delinsTT ENSP00000350283.3:p.Pro568Phe
ENST00000412061.3:c.1053_1054delinsTT
ENST00000461221.5:c.*1485_*1486delinsTT ENSP00000418548.1:n.*1485_*1486delinsTT
ENST00000468300.5:c.787+915_787+916delinsTT ENSP00000417148.1:n.787+915_787+916delinsTT
ENST00000470026.5:c.1702_1703delinsTT ENSP00000419274.1:p.Pro568Phe
ENST00000471181.6:c.1702_1703delinsTT ENSP00000418960.2:p.Pro568Phe
ENST00000477152.5:c.1624_1625delinsTT ENSP00000419988.1:p.Pro542Phe
ENST00000478531.5:c.784+915_784+916delinsTT ENSP00000420412.1:n.784+915_784+916delinsTT
ENST00000484087.5:c.409+915_409+916delinsTT ENSP00000419481.1:n.409+915_409+916delinsTT
ENST00000487825.5:c.412+915_412+916delinsTT ENSP00000418212.1:n.412+915_412+916delinsTT
ENST00000491747.6:c.787+915_787+916delinsTT ENSP00000420705.2:n.787+915_787+916delinsTT
ENST00000493795.5:c.1561_1562delinsTT ENSP00000418775.1:p.Pro521Phe
ENST00000493919.5:c.646+915_646+916delinsTT ENSP00000418819.1:n.646+915_646+916delinsTT
ENST00000586385.5:c.5-29878_5-29877delinsTT ENSP00000465818.1:n.5-29878_5-29877delinsTT
ENST00000591534.5:c.-43-19308_-43-19307delinsTT ENSP00000467329.1:n.-43-19308_-43-19307delinsTT
ENST00000591849.5:c.-99+31442_-99+31443delinsTT ENSP00000465347.1:n.-99+31442_-99+31443delinsTT
ENST00000634433.1:c.1579_1580delinsTT ENSP00000489431.1:p.Pro527Phe
NM_007294.3:c.1702_1703delinsTT , LRG_292t1:c.1702_1703delinsTT NP_009225.1:p.Pro568Phe
NM_007297.3:c.1561_1562delinsTT NP_009228.2:p.Pro521Phe
NM_007298.3:c.787+915_787+916delinsTT NP_009229.2:n.787+915_787+916delinsTT
NM_007299.3:c.787+915_787+916delinsTT NP_009230.2:n.787+915_787+916delinsTT
NM_007300.3:c.1702_1703delinsTT NP_009231.2:p.Pro568Phe
NR_027676.1:n.1838_1839delinsTT
NM_007294.4:c.1702_1703delinsTT MANE Select NP_009225.1:p.Pro568Phe
NM_007297.4:c.1561_1562delinsTT NP_009228.2:p.Pro521Phe
NM_007299.4:c.787+915_787+916delinsTT NP_009230.2:n.787+915_787+916delinsTT
NM_007300.4:c.1702_1703delinsTT NP_009231.2:p.Pro568Phe
NR_027676.2:n.1879_1880delinsTT