Canonical Allele Identifier: CA645373173
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 431253
dbSNP Id: rs1135401867

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091755_43091759del , CM000679.2:g.43091755_43091759del GRCh38
NC_000017.10:g.41243772_41243776del , CM000679.1:g.41243772_41243776del GRCh37
NC_000017.9:g.38497298_38497302del NCBI36
NG_005905.2:g.126225_126229del , LRG_292:g.126225_126229del

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3836_3840del
ENST00000461574.2:c.3772_3776del ENSP00000417241.2:p.Glu1258PhefsTer7
ENST00000470026.6:c.3772_3776del ENSP00000419274.2:p.Glu1258PhefsTer7
ENST00000473961.6:c.3646_3650del ENSP00000420201.2:p.Glu1216PhefsTer7
ENST00000476777.6:c.3769_3773del ENSP00000417554.2:p.Glu1257PhefsTer7
ENST00000477152.6:c.3694_3698del ENSP00000419988.2:p.Glu1232PhefsTer7
ENST00000478531.6:c.785-727_785-723del ENSP00000420412.2:n.785-727_785-723del
ENST00000489037.2:c.3694_3698del ENSP00000420781.2:p.Glu1232PhefsTer7
ENST00000493919.6:c.647-727_647-723del ENSP00000418819.2:n.647-727_647-723del
ENST00000494123.6:c.3772_3776del ENSP00000419103.2:p.Glu1258PhefsTer7
ENST00000497488.2:c.2884_2888del ENSP00000418986.2:p.Glu962PhefsTer7
ENST00000618469.2:c.3772_3776del ENSP00000478114.2:p.Glu1258PhefsTer7
ENST00000634433.2:c.3649_3653del ENSP00000489431.2:p.Glu1217PhefsTer7
ENST00000644379.2:c.3772_3776del ENSP00000496570.2:p.Glu1258PhefsTer7
ENST00000644555.2:c.647-727_647-723del ENSP00000494614.2:n.647-727_647-723del
ENST00000652672.2:c.3631_3635del ENSP00000498906.2:p.Glu1211PhefsTer7
ENST00000484087.6:c.665-727_665-723del ENSP00000419481.2:n.665-727_665-723del
ENST00000700182.1:c.707-727_707-723del ENSP00000514849.1:n.707-727_707-723del
ENST00000357654.9:c.3772_3776del MANE Select ENSP00000350283.3:p.Glu1258PhefsTer7
ENST00000471181.7:c.3772_3776del ENSP00000418960.2:p.Glu1258PhefsTer7
ENST00000644379.1:c.93_97del
ENST00000352993.7:c.671-727_671-723del ENSP00000312236.5:n.671-727_671-723del
ENST00000354071.7:c.3772_3776del ENSP00000326002.7:p.Glu1258PhefsTer7
ENST00000357654.7:c.3772_3776del ENSP00000350283.3:p.Glu1258PhefsTer7
ENST00000461221.5:c.*3555_*3559del ENSP00000418548.1:n.*3555_*3559del
ENST00000461574.1:c.66_70del
ENST00000468300.5:c.788-727_788-723del ENSP00000417148.1:n.788-727_788-723del
ENST00000471181.6:c.3772_3776del ENSP00000418960.2:p.Glu1258PhefsTer7
ENST00000478531.5:c.785-727_785-723del ENSP00000420412.1:n.785-727_785-723del
ENST00000484087.5:c.410-727_410-723del ENSP00000419481.1:n.410-727_410-723del
ENST00000487825.5:c.413-727_413-723del ENSP00000418212.1:n.413-727_413-723del
ENST00000491747.6:c.788-727_788-723del ENSP00000420705.2:n.788-727_788-723del
ENST00000493795.5:c.3631_3635del ENSP00000418775.1:p.Glu1211PhefsTer7
ENST00000493919.5:c.647-727_647-723del ENSP00000418819.1:n.647-727_647-723del
ENST00000586385.5:c.5-27808_5-27804del ENSP00000465818.1:n.5-27808_5-27804del
ENST00000591534.5:c.-43-17238_-43-17234del ENSP00000467329.1:n.-43-17238_-43-17234de...
ENST00000591849.5:c.-99+33512_-99+33516del ENSP00000465347.1:n.-99+33512_-99+33516de...
NM_007294.3:c.3772_3776del , LRG_292t1:c.3772_3776del NP_009225.1:p.Glu1258PhefsTer7
NM_007297.3:c.3631_3635del NP_009228.2:p.Glu1211PhefsTer7
NM_007298.3:c.788-727_788-723del NP_009229.2:n.788-727_788-723del
NM_007299.3:c.788-727_788-723del NP_009230.2:n.788-727_788-723del
NM_007300.3:c.3772_3776del NP_009231.2:p.Glu1258PhefsTer7
NR_027676.1:n.3908_3912del
NM_007294.4:c.3772_3776del MANE Select NP_009225.1:p.Glu1258PhefsTer7
NM_007297.4:c.3631_3635del NP_009228.2:p.Glu1211PhefsTer7
NM_007299.4:c.788-727_788-723del NP_009230.2:n.788-727_788-723del
NM_007300.4:c.3772_3776del NP_009231.2:p.Glu1258PhefsTer7
NR_027676.2:n.3949_3953del