Canonical Allele Identifier: CA10589775
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 266344
ClinVar RCV Id: RCV000257316
dbSNP Id: rs886040105

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43092320_43092321dup , CM000679.2:g.43092320_43092321dup GRCh38
NC_000017.10:g.41244337_41244338dup , CM000679.1:g.41244337_41244338dup GRCh37
NC_000017.9:g.38497863_38497864dup NCBI36
NG_005905.2:g.125664_125665dup , LRG_292:g.125664_125665dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3275_3276dup
ENST00000461574.2:c.3211_3212dup ENSP00000417241.2:p.Leu1072AsnfsTer2
ENST00000470026.6:c.3211_3212dup ENSP00000419274.2:p.Leu1072AsnfsTer2
ENST00000473961.6:c.3085_3086dup ENSP00000420201.2:p.Leu1030AsnfsTer2
ENST00000476777.6:c.3208_3209dup ENSP00000417554.2:p.Leu1071AsnfsTer2
ENST00000477152.6:c.3133_3134dup ENSP00000419988.2:p.Leu1046AsnfsTer2
ENST00000478531.6:c.785-1288_785-1287dup ENSP00000420412.2:n.785-1288_785-1287dup
ENST00000489037.2:c.3133_3134dup ENSP00000420781.2:p.Leu1046AsnfsTer2
ENST00000493919.6:c.647-1288_647-1287dup ENSP00000418819.2:n.647-1288_647-1287dup
ENST00000494123.6:c.3211_3212dup ENSP00000419103.2:p.Leu1072AsnfsTer2
ENST00000497488.2:c.2323_2324dup ENSP00000418986.2:p.Leu776AsnfsTer2
ENST00000618469.2:c.3211_3212dup ENSP00000478114.2:p.Leu1072AsnfsTer2
ENST00000634433.2:c.3088_3089dup ENSP00000489431.2:p.Leu1031AsnfsTer2
ENST00000644379.2:c.3211_3212dup ENSP00000496570.2:p.Leu1072AsnfsTer2
ENST00000644555.2:c.647-1288_647-1287dup ENSP00000494614.2:n.647-1288_647-1287dup
ENST00000652672.2:c.3070_3071dup ENSP00000498906.2:p.Leu1025AsnfsTer2
ENST00000484087.6:c.665-1288_665-1287dup ENSP00000419481.2:n.665-1288_665-1287dup
ENST00000700182.1:c.707-1288_707-1287dup ENSP00000514849.1:n.707-1288_707-1287dup
ENST00000357654.9:c.3211_3212dup MANE Select ENSP00000350283.3:p.Leu1072AsnfsTer2
ENST00000471181.7:c.3211_3212dup ENSP00000418960.2:p.Leu1072AsnfsTer2
ENST00000352993.7:c.671-1288_671-1287dup ENSP00000312236.5:n.671-1288_671-1287dup
ENST00000354071.7:c.3211_3212dup ENSP00000326002.7:p.Leu1072AsnfsTer2
ENST00000357654.7:c.3211_3212dup ENSP00000350283.3:p.Leu1072AsnfsTer2
ENST00000461221.5:c.*2994_*2995dup ENSP00000418548.1:n.*2994_*2995dup
ENST00000468300.5:c.788-1288_788-1287dup ENSP00000417148.1:n.788-1288_788-1287dup
ENST00000471181.6:c.3211_3212dup ENSP00000418960.2:p.Leu1072AsnfsTer2
ENST00000478531.5:c.785-1288_785-1287dup ENSP00000420412.1:n.785-1288_785-1287dup
ENST00000484087.5:c.410-1288_410-1287dup ENSP00000419481.1:n.410-1288_410-1287dup
ENST00000487825.5:c.413-1288_413-1287dup ENSP00000418212.1:n.413-1288_413-1287dup
ENST00000491747.6:c.788-1288_788-1287dup ENSP00000420705.2:n.788-1288_788-1287dup
ENST00000493795.5:c.3070_3071dup ENSP00000418775.1:p.Leu1025AsnfsTer2
ENST00000493919.5:c.647-1288_647-1287dup ENSP00000418819.1:n.647-1288_647-1287dup
ENST00000586385.5:c.5-28369_5-28368dup ENSP00000465818.1:n.5-28369_5-28368dup
ENST00000591534.5:c.-43-17799_-43-17798dup ENSP00000467329.1:n.-43-17799_-43-17798dup
ENST00000591849.5:c.-99+32951_-99+32952dup ENSP00000465347.1:n.-99+32951_-99+32952dup
NM_007294.3:c.3211_3212dup , LRG_292t1:c.3211_3212dup NP_009225.1:p.Leu1072AsnfsTer2
NM_007297.3:c.3070_3071dup NP_009228.2:p.Leu1025AsnfsTer2
NM_007298.3:c.788-1288_788-1287dup NP_009229.2:n.788-1288_788-1287dup
NM_007299.3:c.788-1288_788-1287dup NP_009230.2:n.788-1288_788-1287dup
NM_007300.3:c.3211_3212dup NP_009231.2:p.Leu1072AsnfsTer2
NR_027676.1:n.3347_3348dup
NM_007294.4:c.3211_3212dup MANE Select NP_009225.1:p.Leu1072AsnfsTer2
NM_007297.4:c.3070_3071dup NP_009228.2:p.Leu1025AsnfsTer2
NM_007299.4:c.788-1288_788-1287dup NP_009230.2:n.788-1288_788-1287dup
NM_007300.4:c.3211_3212dup NP_009231.2:p.Leu1072AsnfsTer2
NR_027676.2:n.3388_3389dup