Canonical Allele Identifier: CA2695225944
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091459_43091460del , CM000679.2:g.43091459_43091460del GRCh38
NC_000017.10:g.41243476_41243477del , CM000679.1:g.41243476_41243477del GRCh37
NC_000017.9:g.38497002_38497003del NCBI36
NG_005905.2:g.126526_126527del , LRG_292:g.126526_126527del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4137_4138del
ENST00000461574.2:c.4073_4074del ENSP00000417241.2:p.Glu1358AlafsTer9
ENST00000470026.6:c.4073_4074del ENSP00000419274.2:p.Glu1358AlafsTer9
ENST00000473961.6:c.3947_3948del ENSP00000420201.2:p.Glu1316AlafsTer9
ENST00000476777.6:c.4070_4071del ENSP00000417554.2:p.Glu1357AlafsTer9
ENST00000477152.6:c.3995_3996del ENSP00000419988.2:p.Glu1332AlafsTer9
ENST00000478531.6:c.785-426_785-425del ENSP00000420412.2:n.785-426_785-425del
ENST00000489037.2:c.3995_3996del ENSP00000420781.2:p.Glu1332AlafsTer9
ENST00000493919.6:c.647-426_647-425del ENSP00000418819.2:n.647-426_647-425del
ENST00000494123.6:c.4073_4074del ENSP00000419103.2:p.Glu1358AlafsTer9
ENST00000497488.2:c.3185_3186del ENSP00000418986.2:p.Glu1062AlafsTer9
ENST00000618469.2:c.4073_4074del ENSP00000478114.2:p.Glu1358AlafsTer9
ENST00000634433.2:c.3950_3951del ENSP00000489431.2:p.Glu1317AlafsTer9
ENST00000644379.2:c.4073_4074del ENSP00000496570.2:p.Glu1358AlafsTer9
ENST00000644555.2:c.647-426_647-425del ENSP00000494614.2:n.647-426_647-425del
ENST00000652672.2:c.3932_3933del ENSP00000498906.2:p.Glu1311AlafsTer9
ENST00000484087.6:c.665-426_665-425del ENSP00000419481.2:n.665-426_665-425del
ENST00000700182.1:c.707-426_707-425del ENSP00000514849.1:n.707-426_707-425del
ENST00000357654.9:c.4073_4074del MANE Select ENSP00000350283.3:p.Glu1358AlafsTer9
ENST00000471181.7:c.4073_4074del ENSP00000418960.2:p.Glu1358AlafsTer9
ENST00000644379.1:c.394_395del
ENST00000352993.7:c.671-426_671-425del ENSP00000312236.5:n.671-426_671-425del
ENST00000354071.7:c.4073_4074del ENSP00000326002.7:p.Glu1358AlafsTer22
ENST00000357654.7:c.4073_4074del ENSP00000350283.3:p.Glu1358AlafsTer9
ENST00000461221.5:c.*3856_*3857del ENSP00000418548.1:n.*3856_*3857del
ENST00000461574.1:c.367_368del
ENST00000468300.5:c.788-426_788-425del ENSP00000417148.1:n.788-426_788-425del
ENST00000471181.6:c.4073_4074del ENSP00000418960.2:p.Glu1358AlafsTer9
ENST00000478531.5:c.785-426_785-425del ENSP00000420412.1:n.785-426_785-425del
ENST00000484087.5:c.410-426_410-425del ENSP00000419481.1:n.410-426_410-425del
ENST00000487825.5:c.413-426_413-425del ENSP00000418212.1:n.413-426_413-425del
ENST00000491747.6:c.788-426_788-425del ENSP00000420705.2:n.788-426_788-425del
ENST00000493795.5:c.3932_3933del ENSP00000418775.1:p.Glu1311AlafsTer9
ENST00000493919.5:c.647-426_647-425del ENSP00000418819.1:n.647-426_647-425del
ENST00000586385.5:c.5-27507_5-27506del ENSP00000465818.1:n.5-27507_5-27506del
ENST00000591534.5:c.-43-16937_-43-16936del ENSP00000467329.1:n.-43-16937_-43-16936del
ENST00000591849.5:c.-99+33813_-99+33814del ENSP00000465347.1:n.-99+33813_-99+33814del
NM_007294.3:c.4073_4074del , LRG_292t1:c.4073_4074del NP_009225.1:p.Glu1358AlafsTer9
NM_007297.3:c.3932_3933del NP_009228.2:p.Glu1311AlafsTer9
NM_007298.3:c.788-426_788-425del NP_009229.2:n.788-426_788-425del
NM_007299.3:c.788-426_788-425del NP_009230.2:n.788-426_788-425del
NM_007300.3:c.4073_4074del NP_009231.2:p.Glu1358AlafsTer9
NR_027676.1:n.4209_4210del
NM_007294.4:c.4073_4074del MANE Select NP_009225.1:p.Glu1358AlafsTer9
NM_007297.4:c.3932_3933del NP_009228.2:p.Glu1311AlafsTer9
NM_007299.4:c.788-426_788-425del NP_009230.2:n.788-426_788-425del
NM_007300.4:c.4073_4074del NP_009231.2:p.Glu1358AlafsTer9
NR_027676.2:n.4250_4251del