Canonical Allele Identifier: CA001686
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092970_43092971dup , CM000679.2:g.43092970_43092971dup GRCh38
NC_000017.10:g.41244987_41244988dup , CM000679.1:g.41244987_41244988dup GRCh37
NC_000017.9:g.38498513_38498514dup NCBI36
NG_005905.2:g.125013_125014dup , LRG_292:g.125013_125014dup

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.2560_2561dup MANE Select NP_009225.1:p.Gln855LeufsTer?
ENST00000357654.9:c.2560_2561dup MANE Select ENSP00000350283.3:p.Gln855LeufsTer?
NM_007294.3:c.2560_2561dup , LRG_292t1:c.2560_2561dup NP_009225.1:p.Gln855LeufsTer?
NM_007297.3:c.2419_2420dup NP_009228.2:p.Gln808LeufsTer?
NM_007297.4:c.2419_2420dup NP_009228.2:p.Gln808LeufsTer?
NM_007298.3:c.787+1773_787+1774dup NP_009229.2:n.787+1773_787+1774dup
NM_007299.3:c.787+1773_787+1774dup NP_009230.2:n.787+1773_787+1774dup
NM_007299.4:c.787+1773_787+1774dup NP_009230.2:n.787+1773_787+1774dup
NM_007300.3:c.2560_2561dup NP_009231.2:p.Gln855LeufsTer?
NM_007300.4:c.2560_2561dup NP_009231.2:p.Gln855LeufsTer?
NR_027676.1:n.2696_2697dup
NR_027676.2:n.2737_2738dup
ENST00000352993.7:c.671-1939_671-1938dup ENSP00000312236.5:n.671-1939_671-1938dup
ENST00000354071.7:c.2560_2561dup ENSP00000326002.7:p.Gln855LeufsTer?
ENST00000354071.8:n.2624_2625dup
ENST00000357654.7:c.2560_2561dup ENSP00000350283.3:p.Gln855LeufsTer?
ENST00000461221.5:c.*2343_*2344dup ENSP00000418548.1:n.*2343_*2344dup
ENST00000461574.2:c.2560_2561dup ENSP00000417241.2:p.Gln855LeufsTer?
ENST00000468300.5:c.787+1773_787+1774dup ENSP00000417148.1:n.787+1773_787+1774dup
ENST00000470026.6:c.2560_2561dup ENSP00000419274.2:p.Gln855LeufsTer?
ENST00000471181.6:c.2560_2561dup ENSP00000418960.2:p.Gln855LeufsTer?
ENST00000471181.7:c.2560_2561dup ENSP00000418960.2:p.Gln855LeufsTer?
ENST00000473961.6:c.2434_2435dup ENSP00000420201.2:p.Gln813LeufsTer?
ENST00000476777.6:c.2557_2558dup ENSP00000417554.2:p.Gln854LeufsTer?
ENST00000477152.6:c.2482_2483dup ENSP00000419988.2:p.Gln829LeufsTer?
ENST00000478531.5:c.784+1773_784+1774dup ENSP00000420412.1:n.784+1773_784+1774dup
ENST00000478531.6:c.784+1773_784+1774dup ENSP00000420412.2:n.784+1773_784+1774dup
ENST00000484087.5:c.409+1773_409+1774dup ENSP00000419481.1:n.409+1773_409+1774dup
ENST00000484087.6:c.664+1773_664+1774dup ENSP00000419481.2:n.664+1773_664+1774dup
ENST00000487825.5:c.412+1773_412+1774dup ENSP00000418212.1:n.412+1773_412+1774dup
ENST00000489037.2:c.2482_2483dup ENSP00000420781.2:p.Gln829LeufsTer?
ENST00000491747.6:c.787+1773_787+1774dup ENSP00000420705.2:n.787+1773_787+1774dup
ENST00000493795.5:c.2419_2420dup ENSP00000418775.1:p.Gln808LeufsTer?
ENST00000493919.5:c.646+1773_646+1774dup ENSP00000418819.1:n.646+1773_646+1774dup
ENST00000493919.6:c.646+1773_646+1774dup ENSP00000418819.2:n.646+1773_646+1774dup
ENST00000494123.6:c.2560_2561dup ENSP00000419103.2:p.Gln855LeufsTer?
ENST00000497488.2:c.1672_1673dup ENSP00000418986.2:p.Gln559LeufsTer?
ENST00000586385.5:c.5-29020_5-29019dup ENSP00000465818.1:n.5-29020_5-29019dup
ENST00000591534.5:c.-43-18450_-43-18449dup ENSP00000467329.1:n.-43-18450_-43-18449dup
ENST00000591849.5:c.-99+32300_-99+32301dup ENSP00000465347.1:n.-99+32300_-99+32301dup
ENST00000618469.2:c.2560_2561dup ENSP00000478114.2:p.Gln855LeufsTer?
ENST00000634433.2:c.2437_2438dup ENSP00000489431.2:p.Gln814LeufsTer?
ENST00000644379.2:c.2560_2561dup ENSP00000496570.2:p.Gln855LeufsTer?
ENST00000644555.2:c.646+1773_646+1774dup ENSP00000494614.2:n.646+1773_646+1774dup
ENST00000652672.2:c.2419_2420dup ENSP00000498906.2:p.Gln808LeufsTer?
ENST00000700182.1:c.706+1773_706+1774dup ENSP00000514849.1:n.706+1773_706+1774dup