Canonical Allele Identifier: CA891843727
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 572059
ClinVar RCV Id: RCV000693362
dbSNP Id: rs1567792675

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092368_43092371dup , CM000679.2:g.43092368_43092371dup GRCh38
NC_000017.10:g.41244385_41244388dup , CM000679.1:g.41244385_41244388dup GRCh37
NC_000017.9:g.38497911_38497914dup NCBI36
NG_005905.2:g.125614_125617dup , LRG_292:g.125614_125617dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3225_3228dup
ENST00000461574.2:c.3161_3164dup ENSP00000417241.2:p.Ser1056GlyfsTer5
ENST00000470026.6:c.3161_3164dup ENSP00000419274.2:p.Ser1056GlyfsTer5
ENST00000473961.6:c.3035_3038dup ENSP00000420201.2:p.Ser1014GlyfsTer5
ENST00000476777.6:c.3158_3161dup ENSP00000417554.2:p.Ser1055GlyfsTer5
ENST00000477152.6:c.3083_3086dup ENSP00000419988.2:p.Ser1030GlyfsTer5
ENST00000478531.6:c.785-1338_785-1335dup ENSP00000420412.2:n.785-1338_785-1335dup
ENST00000489037.2:c.3083_3086dup ENSP00000420781.2:p.Ser1030GlyfsTer5
ENST00000493919.6:c.647-1338_647-1335dup ENSP00000418819.2:n.647-1338_647-1335dup
ENST00000494123.6:c.3161_3164dup ENSP00000419103.2:p.Ser1056GlyfsTer5
ENST00000497488.2:c.2273_2276dup ENSP00000418986.2:p.Ser760GlyfsTer5
ENST00000618469.2:c.3161_3164dup ENSP00000478114.2:p.Ser1056GlyfsTer5
ENST00000634433.2:c.3038_3041dup ENSP00000489431.2:p.Ser1015GlyfsTer5
ENST00000644379.2:c.3161_3164dup ENSP00000496570.2:p.Ser1056GlyfsTer5
ENST00000644555.2:c.647-1338_647-1335dup ENSP00000494614.2:n.647-1338_647-1335dup
ENST00000652672.2:c.3020_3023dup ENSP00000498906.2:p.Ser1009GlyfsTer5
ENST00000484087.6:c.665-1338_665-1335dup ENSP00000419481.2:n.665-1338_665-1335dup
ENST00000700182.1:c.707-1338_707-1335dup ENSP00000514849.1:n.707-1338_707-1335dup
ENST00000357654.9:c.3161_3164dup MANE Select ENSP00000350283.3:p.Ser1056GlyfsTer5
ENST00000471181.7:c.3161_3164dup ENSP00000418960.2:p.Ser1056GlyfsTer5
ENST00000352993.7:c.671-1338_671-1335dup ENSP00000312236.5:n.671-1338_671-1335dup
ENST00000354071.7:c.3161_3164dup ENSP00000326002.7:p.Ser1056GlyfsTer5
ENST00000357654.7:c.3161_3164dup ENSP00000350283.3:p.Ser1056GlyfsTer5
ENST00000461221.5:c.*2944_*2947dup ENSP00000418548.1:n.*2944_*2947dup
ENST00000468300.5:c.788-1338_788-1335dup ENSP00000417148.1:n.788-1338_788-1335dup
ENST00000471181.6:c.3161_3164dup ENSP00000418960.2:p.Ser1056GlyfsTer5
ENST00000478531.5:c.785-1338_785-1335dup ENSP00000420412.1:n.785-1338_785-1335dup
ENST00000484087.5:c.410-1338_410-1335dup ENSP00000419481.1:n.410-1338_410-1335dup
ENST00000487825.5:c.413-1338_413-1335dup ENSP00000418212.1:n.413-1338_413-1335dup
ENST00000491747.6:c.788-1338_788-1335dup ENSP00000420705.2:n.788-1338_788-1335dup
ENST00000493795.5:c.3020_3023dup ENSP00000418775.1:p.Ser1009GlyfsTer5
ENST00000493919.5:c.647-1338_647-1335dup ENSP00000418819.1:n.647-1338_647-1335dup
ENST00000586385.5:c.5-28419_5-28416dup ENSP00000465818.1:n.5-28419_5-28416dup
ENST00000591534.5:c.-43-17849_-43-17846dup ENSP00000467329.1:n.-43-17849_-43-17846dup
ENST00000591849.5:c.-99+32901_-99+32904dup ENSP00000465347.1:n.-99+32901_-99+32904dup
NM_007294.3:c.3161_3164dup , LRG_292t1:c.3161_3164dup NP_009225.1:p.Ser1056GlyfsTer5
NM_007297.3:c.3020_3023dup NP_009228.2:p.Ser1009GlyfsTer5
NM_007298.3:c.788-1338_788-1335dup NP_009229.2:n.788-1338_788-1335dup
NM_007299.3:c.788-1338_788-1335dup NP_009230.2:n.788-1338_788-1335dup
NM_007300.3:c.3161_3164dup NP_009231.2:p.Ser1056GlyfsTer5
NR_027676.1:n.3297_3300dup
NM_007294.4:c.3161_3164dup MANE Select NP_009225.1:p.Ser1056GlyfsTer5
NM_007297.4:c.3020_3023dup NP_009228.2:p.Ser1009GlyfsTer5
NM_007299.4:c.788-1338_788-1335dup NP_009230.2:n.788-1338_788-1335dup
NM_007300.4:c.3161_3164dup NP_009231.2:p.Ser1056GlyfsTer5
NR_027676.2:n.3338_3341dup