Canonical Allele Identifier: CA2260782168
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091687_43091692delinsCCTGAG , CM000679.2:g.43091687_43091692delinsCCTGAG GRCh38
NC_000017.10:g.41243704_41243709delinsCCTGAG , CM000679.1:g.41243704_41243709delinsCCTGAG GRCh37
NC_000017.9:g.38497230_38497235delinsCCTGAG NCBI36
NG_005905.2:g.126292_126297delinsCTCAGG , LRG_292:g.126292_126297delinsCTCAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.3903_3908delinsCTCAGG
ENST00000461574.2:c.3839_3844delinsCTCAGG ENSP00000417241.2:p.Ser1280=
ENST00000470026.6:c.3839_3844delinsCTCAGG ENSP00000419274.2:p.Ser1280=
ENST00000473961.6:c.3713_3718delinsCTCAGG ENSP00000420201.2:p.Ser1238=
ENST00000476777.6:c.3836_3841delinsCTCAGG ENSP00000417554.2:p.Ser1279=
ENST00000477152.6:c.3761_3766delinsCTCAGG ENSP00000419988.2:p.Ser1254=
ENST00000478531.6:c.785-660_785-655delinsCTCAGG ENSP00000420412.2:n.785-660_785-655delinsCTCAGG
ENST00000489037.2:c.3761_3766delinsCTCAGG ENSP00000420781.2:p.Ser1254=
ENST00000493919.6:c.647-660_647-655delinsCTCAGG ENSP00000418819.2:n.647-660_647-655delinsCTCAGG
ENST00000494123.6:c.3839_3844delinsCTCAGG ENSP00000419103.2:p.Ser1280=
ENST00000497488.2:c.2951_2956delinsCTCAGG ENSP00000418986.2:p.Ser984=
ENST00000618469.2:c.3839_3844delinsCTCAGG ENSP00000478114.2:p.Ser1280=
ENST00000634433.2:c.3716_3721delinsCTCAGG ENSP00000489431.2:p.Ser1239=
ENST00000644379.2:c.3839_3844delinsCTCAGG ENSP00000496570.2:p.Ser1280=
ENST00000644555.2:c.647-660_647-655delinsCTCAGG ENSP00000494614.2:n.647-660_647-655delinsCTCAGG
ENST00000652672.2:c.3698_3703delinsCTCAGG ENSP00000498906.2:p.Ser1233=
ENST00000484087.6:c.665-660_665-655delinsCTCAGG ENSP00000419481.2:n.665-660_665-655delinsCTCAGG
ENST00000700182.1:c.707-660_707-655delinsCTCAGG ENSP00000514849.1:n.707-660_707-655delinsCTCAGG
ENST00000357654.9:c.3839_3844delinsCTCAGG MANE Select ENSP00000350283.3:p.Ser1280=
ENST00000471181.7:c.3839_3844delinsCTCAGG ENSP00000418960.2:p.Ser1280=
ENST00000644379.1:c.160_165delinsCTCAGG
ENST00000352993.7:c.671-660_671-655delinsCTCAGG ENSP00000312236.5:n.671-660_671-655delinsCTCAGG
ENST00000354071.7:c.3839_3844delinsCTCAGG ENSP00000326002.7:p.Ser1280=
ENST00000357654.7:c.3839_3844delinsCTCAGG ENSP00000350283.3:p.Ser1280=
ENST00000461221.5:c.*3622_*3627delinsCTCAGG ENSP00000418548.1:n.*3622_*3627delinsCTCAGG
ENST00000461574.1:c.133_138delinsCTCAGG
ENST00000468300.5:c.788-660_788-655delinsCTCAGG ENSP00000417148.1:n.788-660_788-655delinsCTCAGG
ENST00000471181.6:c.3839_3844delinsCTCAGG ENSP00000418960.2:p.Ser1280=
ENST00000478531.5:c.785-660_785-655delinsCTCAGG ENSP00000420412.1:n.785-660_785-655delinsCTCAGG
ENST00000484087.5:c.410-660_410-655delinsCTCAGG ENSP00000419481.1:n.410-660_410-655delinsCTCAGG
ENST00000487825.5:c.413-660_413-655delinsCTCAGG ENSP00000418212.1:n.413-660_413-655delinsCTCAGG
ENST00000491747.6:c.788-660_788-655delinsCTCAGG ENSP00000420705.2:n.788-660_788-655delinsCTCAGG
ENST00000493795.5:c.3698_3703delinsCTCAGG ENSP00000418775.1:p.Ser1233=
ENST00000493919.5:c.647-660_647-655delinsCTCAGG ENSP00000418819.1:n.647-660_647-655delinsCTCAGG
ENST00000586385.5:c.5-27741_5-27736delinsCTCAGG ENSP00000465818.1:n.5-27741_5-27736delinsCTCAGG
ENST00000591534.5:c.-43-17171_-43-17166delinsCTCAGG ENSP00000467329.1:n.-43-17171_-43-17166delinsCTCAGG
ENST00000591849.5:c.-99+33579_-99+33584delinsCTCAGG ENSP00000465347.1:n.-99+33579_-99+33584delinsCTCAGG
NM_007294.3:c.3839_3844delinsCTCAGG , LRG_292t1:c.3839_3844delinsCTCAGG NP_009225.1:p.Ser1280=
NM_007297.3:c.3698_3703delinsCTCAGG NP_009228.2:p.Ser1233=
NM_007298.3:c.788-660_788-655delinsCTCAGG NP_009229.2:n.788-660_788-655delinsCTCAGG
NM_007299.3:c.788-660_788-655delinsCTCAGG NP_009230.2:n.788-660_788-655delinsCTCAGG
NM_007300.3:c.3839_3844delinsCTCAGG NP_009231.2:p.Ser1280=
NR_027676.1:n.3975_3980delinsCTCAGG
NM_007294.4:c.3839_3844delinsCTCAGG MANE Select NP_009225.1:p.Ser1280=
NM_007297.4:c.3698_3703delinsCTCAGG NP_009228.2:p.Ser1233=
NM_007299.4:c.788-660_788-655delinsCTCAGG NP_009230.2:n.788-660_788-655delinsCTCAGG
NM_007300.4:c.3839_3844delinsCTCAGG NP_009231.2:p.Ser1280=
NR_027676.2:n.4016_4021delinsCTCAGG