Canonical Allele Identifier: CA913187839
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092366_43092386dup , CM000679.2:g.43092366_43092386dup GRCh38
NC_000017.10:g.41244383_41244403dup , CM000679.1:g.41244383_41244403dup GRCh37
NC_000017.9:g.38497909_38497929dup NCBI36
NG_005905.2:g.125605_125625dup , LRG_292:g.125605_125625dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3216_3236dup
ENST00000461574.2:c.3152_3172dup ENSP00000417241.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000470026.6:c.3152_3172dup ENSP00000419274.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000473961.6:c.3026_3046dup ENSP00000420201.2:p.Ser1015_Ile1016insThrAsnGluValGlySerSer
ENST00000476777.6:c.3149_3169dup ENSP00000417554.2:p.Ser1056_Ile1057insThrAsnGluValGlySerSer
ENST00000477152.6:c.3074_3094dup ENSP00000419988.2:p.Ser1031_Ile1032insThrAsnGluValGlySerSer
ENST00000478531.6:c.785-1347_785-1327dup ENSP00000420412.2:n.785-1347_785-1327dup
ENST00000489037.2:c.3074_3094dup ENSP00000420781.2:p.Ser1031_Ile1032insThrAsnGluValGlySerSer
ENST00000493919.6:c.647-1347_647-1327dup ENSP00000418819.2:n.647-1347_647-1327dup
ENST00000494123.6:c.3152_3172dup ENSP00000419103.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000497488.2:c.2264_2284dup ENSP00000418986.2:p.Ser761_Ile762insThrAsnGluValGlySerSer
ENST00000618469.2:c.3152_3172dup ENSP00000478114.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000634433.2:c.3029_3049dup ENSP00000489431.2:p.Ser1016_Ile1017insThrAsnGluValGlySerSer
ENST00000644379.2:c.3152_3172dup ENSP00000496570.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000644555.2:c.647-1347_647-1327dup ENSP00000494614.2:n.647-1347_647-1327dup
ENST00000652672.2:c.3011_3031dup ENSP00000498906.2:p.Ser1010_Ile1011insThrAsnGluValGlySerSer
ENST00000484087.6:c.665-1347_665-1327dup ENSP00000419481.2:n.665-1347_665-1327dup
ENST00000700182.1:c.707-1347_707-1327dup ENSP00000514849.1:n.707-1347_707-1327dup
ENST00000357654.9:c.3152_3172dup MANE Select ENSP00000350283.3:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000471181.7:c.3152_3172dup ENSP00000418960.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000352993.7:c.671-1347_671-1327dup ENSP00000312236.5:n.671-1347_671-1327dup
ENST00000354071.7:c.3152_3172dup ENSP00000326002.7:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000357654.7:c.3152_3172dup ENSP00000350283.3:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000461221.5:c.*2935_*2955dup ENSP00000418548.1:n.*2935_*2955dup
ENST00000468300.5:c.788-1347_788-1327dup ENSP00000417148.1:n.788-1347_788-1327dup
ENST00000471181.6:c.3152_3172dup ENSP00000418960.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
ENST00000478531.5:c.785-1347_785-1327dup ENSP00000420412.1:n.785-1347_785-1327dup
ENST00000484087.5:c.410-1347_410-1327dup ENSP00000419481.1:n.410-1347_410-1327dup
ENST00000487825.5:c.413-1347_413-1327dup ENSP00000418212.1:n.413-1347_413-1327dup
ENST00000491747.6:c.788-1347_788-1327dup ENSP00000420705.2:n.788-1347_788-1327dup
ENST00000493795.5:c.3011_3031dup ENSP00000418775.1:p.Ser1010_Ile1011insThrAsnGluValGlySerSer
ENST00000493919.5:c.647-1347_647-1327dup ENSP00000418819.1:n.647-1347_647-1327dup
ENST00000586385.5:c.5-28428_5-28408dup ENSP00000465818.1:n.5-28428_5-28408dup
ENST00000591534.5:c.-43-17858_-43-17838dup ENSP00000467329.1:n.-43-17858_-43-17838dup
ENST00000591849.5:c.-99+32892_-99+32912dup ENSP00000465347.1:n.-99+32892_-99+32912dup
NM_007294.3:c.3152_3172dup , LRG_292t1:c.3152_3172dup NP_009225.1:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
NM_007297.3:c.3011_3031dup NP_009228.2:p.Ser1010_Ile1011insThrAsnGluValGlySerSer
NM_007298.3:c.788-1347_788-1327dup NP_009229.2:n.788-1347_788-1327dup
NM_007299.3:c.788-1347_788-1327dup NP_009230.2:n.788-1347_788-1327dup
NM_007300.3:c.3152_3172dup NP_009231.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
NR_027676.1:n.3288_3308dup
NM_007294.4:c.3152_3172dup MANE Select NP_009225.1:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
NM_007297.4:c.3011_3031dup NP_009228.2:p.Ser1010_Ile1011insThrAsnGluValGlySerSer
NM_007299.4:c.788-1347_788-1327dup NP_009230.2:n.788-1347_788-1327dup
NM_007300.4:c.3152_3172dup NP_009231.2:p.Ser1057_Ile1058insThrAsnGluValGlySerSer
NR_027676.2:n.3329_3349dup