Canonical Allele Identifier: CA2260782008
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091529_43091530delinsAC , CM000679.2:g.43091529_43091530delinsAC GRCh38
NC_000017.10:g.41243546_41243547delinsAC , CM000679.1:g.41243546_41243547delinsAC GRCh37
NC_000017.9:g.38497072_38497073delinsAC NCBI36
NG_005905.2:g.126454_126455delinsGT , LRG_292:g.126454_126455delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4065_4066delinsGT
ENST00000461574.2:c.4001_4002delinsGT ENSP00000417241.2:p.Gly1334=
ENST00000470026.6:c.4001_4002delinsGT ENSP00000419274.2:p.Gly1334=
ENST00000473961.6:c.3875_3876delinsGT ENSP00000420201.2:p.Gly1292=
ENST00000476777.6:c.3998_3999delinsGT ENSP00000417554.2:p.Gly1333=
ENST00000477152.6:c.3923_3924delinsGT ENSP00000419988.2:p.Gly1308=
ENST00000478531.6:c.785-498_785-497delinsGT ENSP00000420412.2:n.785-498_785-497delinsGT
ENST00000489037.2:c.3923_3924delinsGT ENSP00000420781.2:p.Gly1308=
ENST00000493919.6:c.647-498_647-497delinsGT ENSP00000418819.2:n.647-498_647-497delinsGT
ENST00000494123.6:c.4001_4002delinsGT ENSP00000419103.2:p.Gly1334=
ENST00000497488.2:c.3113_3114delinsGT ENSP00000418986.2:p.Gly1038=
ENST00000618469.2:c.4001_4002delinsGT ENSP00000478114.2:p.Gly1334=
ENST00000634433.2:c.3878_3879delinsGT ENSP00000489431.2:p.Gly1293=
ENST00000644379.2:c.4001_4002delinsGT ENSP00000496570.2:p.Gly1334=
ENST00000644555.2:c.647-498_647-497delinsGT ENSP00000494614.2:n.647-498_647-497delinsGT
ENST00000652672.2:c.3860_3861delinsGT ENSP00000498906.2:p.Gly1287=
ENST00000484087.6:c.665-498_665-497delinsGT ENSP00000419481.2:n.665-498_665-497delinsGT
ENST00000700182.1:c.707-498_707-497delinsGT ENSP00000514849.1:n.707-498_707-497delinsGT
ENST00000357654.9:c.4001_4002delinsGT MANE Select ENSP00000350283.3:p.Gly1334=
ENST00000471181.7:c.4001_4002delinsGT ENSP00000418960.2:p.Gly1334=
ENST00000644379.1:c.322_323delinsGT
ENST00000352993.7:c.671-498_671-497delinsGT ENSP00000312236.5:n.671-498_671-497delinsGT
ENST00000354071.7:c.4001_4002delinsGT ENSP00000326002.7:p.Gly1334=
ENST00000357654.7:c.4001_4002delinsGT ENSP00000350283.3:p.Gly1334=
ENST00000461221.5:c.*3784_*3785delinsGT ENSP00000418548.1:n.*3784_*3785delinsGT
ENST00000461574.1:c.295_296delinsGT
ENST00000468300.5:c.788-498_788-497delinsGT ENSP00000417148.1:n.788-498_788-497delinsGT
ENST00000471181.6:c.4001_4002delinsGT ENSP00000418960.2:p.Gly1334=
ENST00000478531.5:c.785-498_785-497delinsGT ENSP00000420412.1:n.785-498_785-497delinsGT
ENST00000484087.5:c.410-498_410-497delinsGT ENSP00000419481.1:n.410-498_410-497delinsGT
ENST00000487825.5:c.413-498_413-497delinsGT ENSP00000418212.1:n.413-498_413-497delinsGT
ENST00000491747.6:c.788-498_788-497delinsGT ENSP00000420705.2:n.788-498_788-497delinsGT
ENST00000493795.5:c.3860_3861delinsGT ENSP00000418775.1:p.Gly1287=
ENST00000493919.5:c.647-498_647-497delinsGT ENSP00000418819.1:n.647-498_647-497delinsGT
ENST00000586385.5:c.5-27579_5-27578delinsGT ENSP00000465818.1:n.5-27579_5-27578delinsGT
ENST00000591534.5:c.-43-17009_-43-17008delinsGT ENSP00000467329.1:n.-43-17009_-43-17008delinsGT
ENST00000591849.5:c.-99+33741_-99+33742delinsGT ENSP00000465347.1:n.-99+33741_-99+33742delinsGT
NM_007294.3:c.4001_4002delinsGT , LRG_292t1:c.4001_4002delinsGT NP_009225.1:p.Gly1334=
NM_007297.3:c.3860_3861delinsGT NP_009228.2:p.Gly1287=
NM_007298.3:c.788-498_788-497delinsGT NP_009229.2:n.788-498_788-497delinsGT
NM_007299.3:c.788-498_788-497delinsGT NP_009230.2:n.788-498_788-497delinsGT
NM_007300.3:c.4001_4002delinsGT NP_009231.2:p.Gly1334=
NR_027676.1:n.4137_4138delinsGT
NM_007294.4:c.4001_4002delinsGT MANE Select NP_009225.1:p.Gly1334=
NM_007297.4:c.3860_3861delinsGT NP_009228.2:p.Gly1287=
NM_007299.4:c.788-498_788-497delinsGT NP_009230.2:n.788-498_788-497delinsGT
NM_007300.4:c.4001_4002delinsGT NP_009231.2:p.Gly1334=
NR_027676.2:n.4178_4179delinsGT