Canonical Allele Identifier: CA2580094033
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2108902
ClinVar RCV Id: RCV003017751

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43093092_43093093dup , CM000679.2:g.43093092_43093093dup GRCh38
NC_000017.10:g.41245109_41245110dup , CM000679.1:g.41245109_41245110dup GRCh37
NC_000017.9:g.38498635_38498636dup NCBI36
NG_005905.2:g.124891_124892dup , LRG_292:g.124891_124892dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.2502_2503dup
ENST00000461574.2:c.2438_2439dup ENSP00000417241.2:p.Leu814AspfsTer2
ENST00000470026.6:c.2438_2439dup ENSP00000419274.2:p.Leu814AspfsTer2
ENST00000473961.6:c.2312_2313dup ENSP00000420201.2:p.Leu772AspfsTer2
ENST00000476777.6:c.2435_2436dup ENSP00000417554.2:p.Leu813AspfsTer2
ENST00000477152.6:c.2360_2361dup ENSP00000419988.2:p.Leu788AspfsTer2
ENST00000478531.6:c.784+1651_784+1652dup ENSP00000420412.2:n.784+1651_784+1652dup
ENST00000489037.2:c.2360_2361dup ENSP00000420781.2:p.Leu788AspfsTer2
ENST00000493919.6:c.646+1651_646+1652dup ENSP00000418819.2:n.646+1651_646+1652dup
ENST00000494123.6:c.2438_2439dup ENSP00000419103.2:p.Leu814AspfsTer2
ENST00000497488.2:c.1550_1551dup ENSP00000418986.2:p.Leu518AspfsTer2
ENST00000618469.2:c.2438_2439dup ENSP00000478114.2:p.Leu814AspfsTer2
ENST00000634433.2:c.2315_2316dup ENSP00000489431.2:p.Leu773AspfsTer2
ENST00000644379.2:c.2438_2439dup ENSP00000496570.2:p.Leu814AspfsTer2
ENST00000644555.2:c.646+1651_646+1652dup ENSP00000494614.2:n.646+1651_646+1652dup
ENST00000652672.2:c.2297_2298dup ENSP00000498906.2:p.Leu767AspfsTer2
ENST00000484087.6:c.664+1651_664+1652dup ENSP00000419481.2:n.664+1651_664+1652dup
ENST00000700182.1:c.706+1651_706+1652dup ENSP00000514849.1:n.706+1651_706+1652dup
ENST00000357654.9:c.2438_2439dup MANE Select ENSP00000350283.3:p.Leu814AspfsTer2
ENST00000471181.7:c.2438_2439dup ENSP00000418960.2:p.Leu814AspfsTer2
ENST00000352993.7:c.671-2061_671-2060dup ENSP00000312236.5:n.671-2061_671-2060dup
ENST00000354071.7:c.2438_2439dup ENSP00000326002.7:p.Leu814AspfsTer2
ENST00000357654.7:c.2438_2439dup ENSP00000350283.3:p.Leu814AspfsTer2
ENST00000461221.5:c.*2221_*2222dup ENSP00000418548.1:n.*2221_*2222dup
ENST00000468300.5:c.787+1651_787+1652dup ENSP00000417148.1:n.787+1651_787+1652dup
ENST00000471181.6:c.2438_2439dup ENSP00000418960.2:p.Leu814AspfsTer2
ENST00000478531.5:c.784+1651_784+1652dup ENSP00000420412.1:n.784+1651_784+1652dup
ENST00000484087.5:c.409+1651_409+1652dup ENSP00000419481.1:n.409+1651_409+1652dup
ENST00000487825.5:c.412+1651_412+1652dup ENSP00000418212.1:n.412+1651_412+1652dup
ENST00000491747.6:c.787+1651_787+1652dup ENSP00000420705.2:n.787+1651_787+1652dup
ENST00000493795.5:c.2297_2298dup ENSP00000418775.1:p.Leu767AspfsTer2
ENST00000493919.5:c.646+1651_646+1652dup ENSP00000418819.1:n.646+1651_646+1652dup
ENST00000586385.5:c.5-29142_5-29141dup ENSP00000465818.1:n.5-29142_5-29141dup
ENST00000591534.5:c.-43-18572_-43-18571dup ENSP00000467329.1:n.-43-18572_-43-18571dup
ENST00000591849.5:c.-99+32178_-99+32179dup ENSP00000465347.1:n.-99+32178_-99+32179dup
ENST00000634433.1:c.2315_2316dup ENSP00000489431.1:p.Leu773AspfsTer2
NM_007294.3:c.2438_2439dup , LRG_292t1:c.2438_2439dup NP_009225.1:p.Leu814AspfsTer2
NM_007297.3:c.2297_2298dup NP_009228.2:p.Leu767AspfsTer2
NM_007298.3:c.787+1651_787+1652dup NP_009229.2:n.787+1651_787+1652dup
NM_007299.3:c.787+1651_787+1652dup NP_009230.2:n.787+1651_787+1652dup
NM_007300.3:c.2438_2439dup NP_009231.2:p.Leu814AspfsTer2
NR_027676.1:n.2574_2575dup
NM_007294.4:c.2438_2439dup MANE Select NP_009225.1:p.Leu814AspfsTer2
NM_007297.4:c.2297_2298dup NP_009228.2:p.Leu767AspfsTer2
NM_007299.4:c.787+1651_787+1652dup NP_009230.2:n.787+1651_787+1652dup
NM_007300.4:c.2438_2439dup NP_009231.2:p.Leu814AspfsTer2
NR_027676.2:n.2615_2616dup