Canonical Allele Identifier: CA2260781935
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091459_43091460delinsCT , CM000679.2:g.43091459_43091460delinsCT GRCh38
NC_000017.10:g.41243476_41243477delinsCT , CM000679.1:g.41243476_41243477delinsCT GRCh37
NC_000017.9:g.38497002_38497003delinsCT NCBI36
NG_005905.2:g.126524_126525delinsAG , LRG_292:g.126524_126525delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4135_4136delinsAG
ENST00000461574.2:c.4071_4072delinsAG ENSP00000417241.2:p.Glu1357=
ENST00000470026.6:c.4071_4072delinsAG ENSP00000419274.2:p.Glu1357=
ENST00000473961.6:c.3945_3946delinsAG ENSP00000420201.2:p.Glu1315=
ENST00000476777.6:c.4068_4069delinsAG ENSP00000417554.2:p.Glu1356=
ENST00000477152.6:c.3993_3994delinsAG ENSP00000419988.2:p.Glu1331=
ENST00000478531.6:c.785-428_785-427delinsAG ENSP00000420412.2:n.785-428_785-427delinsAG
ENST00000489037.2:c.3993_3994delinsAG ENSP00000420781.2:p.Glu1331=
ENST00000493919.6:c.647-428_647-427delinsAG ENSP00000418819.2:n.647-428_647-427delinsAG
ENST00000494123.6:c.4071_4072delinsAG ENSP00000419103.2:p.Glu1357=
ENST00000497488.2:c.3183_3184delinsAG ENSP00000418986.2:p.Glu1061=
ENST00000618469.2:c.4071_4072delinsAG ENSP00000478114.2:p.Glu1357=
ENST00000634433.2:c.3948_3949delinsAG ENSP00000489431.2:p.Glu1316=
ENST00000644379.2:c.4071_4072delinsAG ENSP00000496570.2:p.Glu1357=
ENST00000644555.2:c.647-428_647-427delinsAG ENSP00000494614.2:n.647-428_647-427delinsAG
ENST00000652672.2:c.3930_3931delinsAG ENSP00000498906.2:p.Glu1310=
ENST00000484087.6:c.665-428_665-427delinsAG ENSP00000419481.2:n.665-428_665-427delinsAG
ENST00000700182.1:c.707-428_707-427delinsAG ENSP00000514849.1:n.707-428_707-427delinsAG
ENST00000357654.9:c.4071_4072delinsAG MANE Select ENSP00000350283.3:p.Glu1357=
ENST00000471181.7:c.4071_4072delinsAG ENSP00000418960.2:p.Glu1357=
ENST00000644379.1:c.392_393delinsAG
ENST00000352993.7:c.671-428_671-427delinsAG ENSP00000312236.5:n.671-428_671-427delinsAG
ENST00000354071.7:c.4071_4072delinsAG ENSP00000326002.7:p.Glu1357=
ENST00000357654.7:c.4071_4072delinsAG ENSP00000350283.3:p.Glu1357=
ENST00000461221.5:c.*3854_*3855delinsAG ENSP00000418548.1:n.*3854_*3855delinsAG
ENST00000461574.1:c.365_366delinsAG
ENST00000468300.5:c.788-428_788-427delinsAG ENSP00000417148.1:n.788-428_788-427delinsAG
ENST00000471181.6:c.4071_4072delinsAG ENSP00000418960.2:p.Glu1357=
ENST00000478531.5:c.785-428_785-427delinsAG ENSP00000420412.1:n.785-428_785-427delinsAG
ENST00000484087.5:c.410-428_410-427delinsAG ENSP00000419481.1:n.410-428_410-427delinsAG
ENST00000487825.5:c.413-428_413-427delinsAG ENSP00000418212.1:n.413-428_413-427delinsAG
ENST00000491747.6:c.788-428_788-427delinsAG ENSP00000420705.2:n.788-428_788-427delinsAG
ENST00000493795.5:c.3930_3931delinsAG ENSP00000418775.1:p.Glu1310=
ENST00000493919.5:c.647-428_647-427delinsAG ENSP00000418819.1:n.647-428_647-427delinsAG
ENST00000586385.5:c.5-27509_5-27508delinsAG ENSP00000465818.1:n.5-27509_5-27508delinsAG
ENST00000591534.5:c.-43-16939_-43-16938delinsAG ENSP00000467329.1:n.-43-16939_-43-16938delinsAG
ENST00000591849.5:c.-99+33811_-99+33812delinsAG ENSP00000465347.1:n.-99+33811_-99+33812delinsAG
NM_007294.3:c.4071_4072delinsAG , LRG_292t1:c.4071_4072delinsAG NP_009225.1:p.Glu1357=
NM_007297.3:c.3930_3931delinsAG NP_009228.2:p.Glu1310=
NM_007298.3:c.788-428_788-427delinsAG NP_009229.2:n.788-428_788-427delinsAG
NM_007299.3:c.788-428_788-427delinsAG NP_009230.2:n.788-428_788-427delinsAG
NM_007300.3:c.4071_4072delinsAG NP_009231.2:p.Glu1357=
NR_027676.1:n.4207_4208delinsAG
NM_007294.4:c.4071_4072delinsAG MANE Select NP_009225.1:p.Glu1357=
NM_007297.4:c.3930_3931delinsAG NP_009228.2:p.Glu1310=
NM_007299.4:c.788-428_788-427delinsAG NP_009230.2:n.788-428_788-427delinsAG
NM_007300.4:c.4071_4072delinsAG NP_009231.2:p.Glu1357=
NR_027676.2:n.4248_4249delinsAG