Canonical Allele Identifier: CA2260782150
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091671_43091672delinsTC , CM000679.2:g.43091671_43091672delinsTC GRCh38
NC_000017.10:g.41243688_41243689delinsTC , CM000679.1:g.41243688_41243689delinsTC GRCh37
NC_000017.9:g.38497214_38497215delinsTC NCBI36
NG_005905.2:g.126312_126313delinsGA , LRG_292:g.126312_126313delinsGA

Transcript Alleles

HGVS Amino-acid change
ENST00000354071.8:n.3923_3924delinsGA
ENST00000461574.2:c.3859_3860delinsGA ENSP00000417241.2:p.Glu1287=
ENST00000470026.6:c.3859_3860delinsGA ENSP00000419274.2:p.Glu1287=
ENST00000473961.6:c.3733_3734delinsGA ENSP00000420201.2:p.Glu1245=
ENST00000476777.6:c.3856_3857delinsGA ENSP00000417554.2:p.Glu1286=
ENST00000477152.6:c.3781_3782delinsGA ENSP00000419988.2:p.Glu1261=
ENST00000478531.6:c.785-640_785-639delinsGA ENSP00000420412.2:n.785-640_785-639delins...
ENST00000489037.2:c.3781_3782delinsGA ENSP00000420781.2:p.Glu1261=
ENST00000493919.6:c.647-640_647-639delinsGA ENSP00000418819.2:n.647-640_647-639delins...
ENST00000494123.6:c.3859_3860delinsGA ENSP00000419103.2:p.Glu1287=
ENST00000497488.2:c.2971_2972delinsGA ENSP00000418986.2:p.Glu991=
ENST00000618469.2:c.3859_3860delinsGA ENSP00000478114.2:p.Glu1287=
ENST00000634433.2:c.3736_3737delinsGA ENSP00000489431.2:p.Glu1246=
ENST00000644379.2:c.3859_3860delinsGA ENSP00000496570.2:p.Glu1287=
ENST00000644555.2:c.647-640_647-639delinsGA ENSP00000494614.2:n.647-640_647-639delins...
ENST00000652672.2:c.3718_3719delinsGA ENSP00000498906.2:p.Glu1240=
ENST00000484087.6:c.665-640_665-639delinsGA ENSP00000419481.2:n.665-640_665-639delins...
ENST00000700182.1:c.707-640_707-639delinsGA ENSP00000514849.1:n.707-640_707-639delins...
ENST00000357654.9:c.3859_3860delinsGA MANE Select ENSP00000350283.3:p.Glu1287=
ENST00000471181.7:c.3859_3860delinsGA ENSP00000418960.2:p.Glu1287=
ENST00000644379.1:c.180_181delinsGA
ENST00000352993.7:c.671-640_671-639delinsGA ENSP00000312236.5:n.671-640_671-639delins...
ENST00000354071.7:c.3859_3860delinsGA ENSP00000326002.7:p.Glu1287=
ENST00000357654.7:c.3859_3860delinsGA ENSP00000350283.3:p.Glu1287=
ENST00000461221.5:c.*3642_*3643delinsGA ENSP00000418548.1:n.*3642_*3643delinsGA
ENST00000461574.1:c.153_154delinsGA
ENST00000468300.5:c.788-640_788-639delinsGA ENSP00000417148.1:n.788-640_788-639delins...
ENST00000471181.6:c.3859_3860delinsGA ENSP00000418960.2:p.Glu1287=
ENST00000478531.5:c.785-640_785-639delinsGA ENSP00000420412.1:n.785-640_785-639delins...
ENST00000484087.5:c.410-640_410-639delinsGA ENSP00000419481.1:n.410-640_410-639delins...
ENST00000487825.5:c.413-640_413-639delinsGA ENSP00000418212.1:n.413-640_413-639delins...
ENST00000491747.6:c.788-640_788-639delinsGA ENSP00000420705.2:n.788-640_788-639delins...
ENST00000493795.5:c.3718_3719delinsGA ENSP00000418775.1:p.Glu1240=
ENST00000493919.5:c.647-640_647-639delinsGA ENSP00000418819.1:n.647-640_647-639delins...
ENST00000586385.5:c.5-27721_5-27720delinsGA ENSP00000465818.1:n.5-27721_5-27720delins...
ENST00000591534.5:c.-43-17151_-43-17150delinsGA ENSP00000467329.1:n.-43-17151_-43-17150de...
ENST00000591849.5:c.-99+33599_-99+33600delinsGA ENSP00000465347.1:n.-99+33599_-99+33600de...
NM_007294.3:c.3859_3860delinsGA , LRG_292t1:c.3859_3860delinsGA NP_009225.1:p.Glu1287=
NM_007297.3:c.3718_3719delinsGA NP_009228.2:p.Glu1240=
NM_007298.3:c.788-640_788-639delinsGA NP_009229.2:n.788-640_788-639delinsGA
NM_007299.3:c.788-640_788-639delinsGA NP_009230.2:n.788-640_788-639delinsGA
NM_007300.3:c.3859_3860delinsGA NP_009231.2:p.Glu1287=
NR_027676.1:n.3995_3996delinsGA
NM_007294.4:c.3859_3860delinsGA MANE Select NP_009225.1:p.Glu1287=
NM_007297.4:c.3718_3719delinsGA NP_009228.2:p.Glu1240=
NM_007299.4:c.788-640_788-639delinsGA NP_009230.2:n.788-640_788-639delinsGA
NM_007300.4:c.3859_3860delinsGA NP_009231.2:p.Glu1287=
NR_027676.2:n.4036_4037delinsGA