Canonical Allele Identifier: CA2260782146
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091666_43091670delinsTTTCC , CM000679.2:g.43091666_43091670delinsTTTCC GRCh38
NC_000017.10:g.41243683_41243687delinsTTTCC , CM000679.1:g.41243683_41243687delinsTTTCC GRCh37
NC_000017.9:g.38497209_38497213delinsTTTCC NCBI36
NG_005905.2:g.126314_126318delinsGGAAA , LRG_292:g.126314_126318delinsGGAAA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3925_3929delinsGGAAA
ENST00000461574.2:c.3861_3865delinsGGAAA ENSP00000417241.2:p.Glu1287=
ENST00000470026.6:c.3861_3865delinsGGAAA ENSP00000419274.2:p.Glu1287=
ENST00000473961.6:c.3735_3739delinsGGAAA ENSP00000420201.2:p.Glu1245=
ENST00000476777.6:c.3858_3862delinsGGAAA ENSP00000417554.2:p.Glu1286=
ENST00000477152.6:c.3783_3787delinsGGAAA ENSP00000419988.2:p.Glu1261=
ENST00000478531.6:c.785-638_785-634delinsGGAAA ENSP00000420412.2:n.785-638_785-634delins...
ENST00000489037.2:c.3783_3787delinsGGAAA ENSP00000420781.2:p.Glu1261=
ENST00000493919.6:c.647-638_647-634delinsGGAAA ENSP00000418819.2:n.647-638_647-634delins...
ENST00000494123.6:c.3861_3865delinsGGAAA ENSP00000419103.2:p.Glu1287=
ENST00000497488.2:c.2973_2977delinsGGAAA ENSP00000418986.2:p.Glu991=
ENST00000618469.2:c.3861_3865delinsGGAAA ENSP00000478114.2:p.Glu1287=
ENST00000634433.2:c.3738_3742delinsGGAAA ENSP00000489431.2:p.Glu1246=
ENST00000644379.2:c.3861_3865delinsGGAAA ENSP00000496570.2:p.Glu1287=
ENST00000644555.2:c.647-638_647-634delinsGGAAA ENSP00000494614.2:n.647-638_647-634delins...
ENST00000652672.2:c.3720_3724delinsGGAAA ENSP00000498906.2:p.Glu1240=
ENST00000484087.6:c.665-638_665-634delinsGGAAA ENSP00000419481.2:n.665-638_665-634delins...
ENST00000700182.1:c.707-638_707-634delinsGGAAA ENSP00000514849.1:n.707-638_707-634delins...
ENST00000357654.9:c.3861_3865delinsGGAAA MANE Select ENSP00000350283.3:p.Glu1287=
ENST00000471181.7:c.3861_3865delinsGGAAA ENSP00000418960.2:p.Glu1287=
ENST00000644379.1:c.182_186delinsGGAAA
ENST00000352993.7:c.671-638_671-634delinsGGAAA ENSP00000312236.5:n.671-638_671-634delins...
ENST00000354071.7:c.3861_3865delinsGGAAA ENSP00000326002.7:p.Glu1287=
ENST00000357654.7:c.3861_3865delinsGGAAA ENSP00000350283.3:p.Glu1287=
ENST00000461221.5:c.*3644_*3648delinsGGAAA ENSP00000418548.1:n.*3644_*3648delinsGGAA...
ENST00000461574.1:c.155_159delinsGGAAA
ENST00000468300.5:c.788-638_788-634delinsGGAAA ENSP00000417148.1:n.788-638_788-634delins...
ENST00000471181.6:c.3861_3865delinsGGAAA ENSP00000418960.2:p.Glu1287=
ENST00000478531.5:c.785-638_785-634delinsGGAAA ENSP00000420412.1:n.785-638_785-634delins...
ENST00000484087.5:c.410-638_410-634delinsGGAAA ENSP00000419481.1:n.410-638_410-634delins...
ENST00000487825.5:c.413-638_413-634delinsGGAAA ENSP00000418212.1:n.413-638_413-634delins...
ENST00000491747.6:c.788-638_788-634delinsGGAAA ENSP00000420705.2:n.788-638_788-634delins...
ENST00000493795.5:c.3720_3724delinsGGAAA ENSP00000418775.1:p.Glu1240=
ENST00000493919.5:c.647-638_647-634delinsGGAAA ENSP00000418819.1:n.647-638_647-634delins...
ENST00000586385.5:c.5-27719_5-27715delinsGGAAA ENSP00000465818.1:n.5-27719_5-27715delins...
ENST00000591534.5:c.-43-17149_-43-17145delinsGGAAA ENSP00000467329.1:n.-43-17149_-43-17145de...
ENST00000591849.5:c.-99+33601_-99+33605delinsGGAAA ENSP00000465347.1:n.-99+33601_-99+33605de...
NM_007294.3:c.3861_3865delinsGGAAA , LRG_292t1:c.3861_3865delinsGGAAA NP_009225.1:p.Glu1287=
NM_007297.3:c.3720_3724delinsGGAAA NP_009228.2:p.Glu1240=
NM_007298.3:c.788-638_788-634delinsGGAAA NP_009229.2:n.788-638_788-634delinsGGAAA
NM_007299.3:c.788-638_788-634delinsGGAAA NP_009230.2:n.788-638_788-634delinsGGAAA
NM_007300.3:c.3861_3865delinsGGAAA NP_009231.2:p.Glu1287=
NR_027676.1:n.3997_4001delinsGGAAA
NM_007294.4:c.3861_3865delinsGGAAA MANE Select NP_009225.1:p.Glu1287=
NM_007297.4:c.3720_3724delinsGGAAA NP_009228.2:p.Glu1240=
NM_007299.4:c.788-638_788-634delinsGGAAA NP_009230.2:n.788-638_788-634delinsGGAAA
NM_007300.4:c.3861_3865delinsGGAAA NP_009231.2:p.Glu1287=
NR_027676.2:n.4038_4042delinsGGAAA