Canonical Allele Identifier: CA327718
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 54127
dbSNP Id: rs397508836

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094431dup , CM000679.2:g.43094431dup GRCh38
NC_000017.10:g.41246448dup , CM000679.1:g.41246448dup GRCh37
NC_000017.9:g.38499974dup NCBI36
NG_005905.2:g.123553dup , LRG_292:g.123553dup

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.1164dup
ENST00000461574.2:c.1100dup ENSP00000417241.2:p.Glu368Ter
ENST00000470026.6:c.1100dup ENSP00000419274.2:p.Glu368Ter
ENST00000473961.6:c.974dup ENSP00000420201.2:p.Glu326Ter
ENST00000476777.6:c.1097dup ENSP00000417554.2:p.Glu367Ter
ENST00000477152.6:c.1022dup ENSP00000419988.2:p.Glu342Ter
ENST00000478531.6:c.784+313dup ENSP00000420412.2:n.784+313dup
ENST00000489037.2:c.1022dup ENSP00000420781.2:p.Glu342Ter
ENST00000493919.6:c.646+313dup ENSP00000418819.2:n.646+313dup
ENST00000494123.6:c.1100dup ENSP00000419103.2:p.Glu368Ter
ENST00000497488.2:c.212dup ENSP00000418986.2:p.Glu72Ter
ENST00000618469.2:c.1100dup ENSP00000478114.2:p.Glu368Ter
ENST00000634433.2:c.977dup ENSP00000489431.2:p.Glu327Ter
ENST00000644379.2:c.1100dup ENSP00000496570.2:p.Glu368Ter
ENST00000644555.2:c.646+313dup ENSP00000494614.2:n.646+313dup
ENST00000652672.2:c.959dup ENSP00000498906.2:p.Glu321Ter
ENST00000484087.6:c.664+313dup ENSP00000419481.2:n.664+313dup
ENST00000700182.1:c.706+313dup ENSP00000514849.1:n.706+313dup
ENST00000700183.1:c.*1108dup ENSP00000514850.1:n.*1108dup
ENST00000357654.9:c.1100dup MANE Select ENSP00000350283.3:p.Glu368Ter
ENST00000471181.7:c.1100dup ENSP00000418960.2:p.Glu368Ter
ENST00000652672.1:c.959dup ENSP00000498906.1:p.Glu321Ter
ENST00000352993.7:c.670+1415dup ENSP00000312236.5:n.670+1415dup
ENST00000354071.7:c.1100dup ENSP00000326002.7:p.Glu368Ter
ENST00000357654.7:c.1100dup ENSP00000350283.3:p.Glu368Ter
ENST00000412061.3:c.451dup
ENST00000461221.5:c.*883dup ENSP00000418548.1:n.*883dup
ENST00000468300.5:c.787+313dup ENSP00000417148.1:n.787+313dup
ENST00000470026.5:c.1100dup ENSP00000419274.1:p.Glu368Ter
ENST00000471181.6:c.1100dup ENSP00000418960.2:p.Glu368Ter
ENST00000473961.5:c.697dup
ENST00000477152.5:c.1022dup ENSP00000419988.1:p.Glu342Ter
ENST00000478531.5:c.784+313dup ENSP00000420412.1:n.784+313dup
ENST00000484087.5:c.409+313dup ENSP00000419481.1:n.409+313dup
ENST00000487825.5:c.412+313dup ENSP00000418212.1:n.412+313dup
ENST00000491747.6:c.787+313dup ENSP00000420705.2:n.787+313dup
ENST00000492859.5:c.*1036dup ENSP00000420253.1:n.*1036dup
ENST00000493795.5:c.959dup ENSP00000418775.1:p.Glu321Ter
ENST00000493919.5:c.646+313dup ENSP00000418819.1:n.646+313dup
ENST00000494123.5:c.1100dup ENSP00000419103.1:p.Glu368Ter
ENST00000497488.1:c.212dup ENSP00000418986.1:p.Glu72Ter
ENST00000586385.5:c.5-30480dup ENSP00000465818.1:n.5-30480dup
ENST00000591534.5:c.-43-19910dup ENSP00000467329.1:n.-43-19910dup
ENST00000591849.5:c.-99+30840dup ENSP00000465347.1:n.-99+30840dup
ENST00000634433.1:c.977dup ENSP00000489431.1:p.Glu327Ter
NM_007294.3:c.1100dup , LRG_292t1:c.1100dup NP_009225.1:p.Glu368Ter
NM_007297.3:c.959dup NP_009228.2:p.Glu321Ter
NM_007298.3:c.787+313dup NP_009229.2:n.787+313dup
NM_007299.3:c.787+313dup NP_009230.2:n.787+313dup
NM_007300.3:c.1100dup NP_009231.2:p.Glu368Ter
NR_027676.1:n.1236dup
NM_007294.4:c.1100dup MANE Select NP_009225.1:p.Glu368Ter
NM_007297.4:c.959dup NP_009228.2:p.Glu321Ter
NM_007299.4:c.787+313dup NP_009230.2:n.787+313dup
NM_007300.4:c.1100dup NP_009231.2:p.Glu368Ter
NR_027676.2:n.1277dup