Canonical Allele Identifier: CA916084308
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091460_43091461insAATC , CM000679.2:g.43091460_43091461insAATC GRCh38
NC_000017.10:g.41243477_41243478insAATC , CM000679.1:g.41243477_41243478insAATC GRCh37
NC_000017.9:g.38497003_38497004insAATC NCBI36
NG_005905.2:g.126523_126524insGATT , LRG_292:g.126523_126524insGATT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4134_4135insGATT
ENST00000461574.2:c.4070_4071insGATT ENSP00000417241.2:p.Glu1358IlefsTer11
ENST00000470026.6:c.4070_4071insGATT ENSP00000419274.2:p.Glu1358IlefsTer11
ENST00000473961.6:c.3944_3945insGATT ENSP00000420201.2:p.Glu1316IlefsTer11
ENST00000476777.6:c.4067_4068insGATT ENSP00000417554.2:p.Glu1357IlefsTer11
ENST00000477152.6:c.3992_3993insGATT ENSP00000419988.2:p.Glu1332IlefsTer11
ENST00000478531.6:c.785-429_785-428insGATT ENSP00000420412.2:n.785-429_785-428insGATT
ENST00000489037.2:c.3992_3993insGATT ENSP00000420781.2:p.Glu1332IlefsTer11
ENST00000493919.6:c.647-429_647-428insGATT ENSP00000418819.2:n.647-429_647-428insGATT
ENST00000494123.6:c.4070_4071insGATT ENSP00000419103.2:p.Glu1358IlefsTer11
ENST00000497488.2:c.3182_3183insGATT ENSP00000418986.2:p.Glu1062IlefsTer11
ENST00000618469.2:c.4070_4071insGATT ENSP00000478114.2:p.Glu1358IlefsTer11
ENST00000634433.2:c.3947_3948insGATT ENSP00000489431.2:p.Glu1317IlefsTer11
ENST00000644379.2:c.4070_4071insGATT ENSP00000496570.2:p.Glu1358IlefsTer11
ENST00000644555.2:c.647-429_647-428insGATT ENSP00000494614.2:n.647-429_647-428insGATT
ENST00000652672.2:c.3929_3930insGATT ENSP00000498906.2:p.Glu1311IlefsTer11
ENST00000484087.6:c.665-429_665-428insGATT ENSP00000419481.2:n.665-429_665-428insGATT
ENST00000700182.1:c.707-429_707-428insGATT ENSP00000514849.1:n.707-429_707-428insGATT
ENST00000357654.9:c.4070_4071insGATT MANE Select ENSP00000350283.3:p.Glu1358IlefsTer11
ENST00000471181.7:c.4070_4071insGATT ENSP00000418960.2:p.Glu1358IlefsTer11
ENST00000644379.1:c.391_392insGATT
ENST00000352993.7:c.671-429_671-428insGATT ENSP00000312236.5:n.671-429_671-428insGATT
ENST00000354071.7:c.4070_4071insGATT ENSP00000326002.7:p.Glu1358IlefsTer24
ENST00000357654.7:c.4070_4071insGATT ENSP00000350283.3:p.Glu1358IlefsTer11
ENST00000461221.5:c.*3853_*3854insGATT ENSP00000418548.1:n.*3853_*3854insGATT
ENST00000461574.1:c.364_365insGATT
ENST00000468300.5:c.788-429_788-428insGATT ENSP00000417148.1:n.788-429_788-428insGATT
ENST00000471181.6:c.4070_4071insGATT ENSP00000418960.2:p.Glu1358IlefsTer11
ENST00000478531.5:c.785-429_785-428insGATT ENSP00000420412.1:n.785-429_785-428insGATT
ENST00000484087.5:c.410-429_410-428insGATT ENSP00000419481.1:n.410-429_410-428insGATT
ENST00000487825.5:c.413-429_413-428insGATT ENSP00000418212.1:n.413-429_413-428insGATT
ENST00000491747.6:c.788-429_788-428insGATT ENSP00000420705.2:n.788-429_788-428insGATT
ENST00000493795.5:c.3929_3930insGATT ENSP00000418775.1:p.Glu1311IlefsTer11
ENST00000493919.5:c.647-429_647-428insGATT ENSP00000418819.1:n.647-429_647-428insGATT
ENST00000586385.5:c.5-27510_5-27509insGATT ENSP00000465818.1:n.5-27510_5-27509insGATT
ENST00000591534.5:c.-43-16940_-43-16939insGATT ENSP00000467329.1:n.-43-16940_-43-16939insGATT
ENST00000591849.5:c.-99+33810_-99+33811insGATT ENSP00000465347.1:n.-99+33810_-99+33811insGATT
NM_007294.3:c.4070_4071insGATT , LRG_292t1:c.4070_4071insGATT NP_009225.1:p.Glu1358IlefsTer11
NM_007297.3:c.3929_3930insGATT NP_009228.2:p.Glu1311IlefsTer11
NM_007298.3:c.788-429_788-428insGATT NP_009229.2:n.788-429_788-428insGATT
NM_007299.3:c.788-429_788-428insGATT NP_009230.2:n.788-429_788-428insGATT
NM_007300.3:c.4070_4071insGATT NP_009231.2:p.Glu1358IlefsTer11
NR_027676.1:n.4206_4207insGATT
NM_007294.4:c.4070_4071insGATT MANE Select NP_009225.1:p.Glu1358IlefsTer11
NM_007297.4:c.3929_3930insGATT NP_009228.2:p.Glu1311IlefsTer11
NM_007299.4:c.788-429_788-428insGATT NP_009230.2:n.788-429_788-428insGATT
NM_007300.4:c.4070_4071insGATT NP_009231.2:p.Glu1358IlefsTer11
NR_027676.2:n.4247_4248insGATT