Canonical Allele Identifier: CA2527776717
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091530_43091532del , CM000679.2:g.43091530_43091532del GRCh38
NC_000017.10:g.41243547_41243549del , CM000679.1:g.41243547_41243549del GRCh37
NC_000017.9:g.38497073_38497075del NCBI36
NG_005905.2:g.126453_126455del , LRG_292:g.126453_126455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4064_4066del
ENST00000461574.2:c.4000_4002del ENSP00000417241.2:p.Gly1334del
ENST00000470026.6:c.4000_4002del ENSP00000419274.2:p.Gly1334del
ENST00000473961.6:c.3874_3876del ENSP00000420201.2:p.Gly1292del
ENST00000476777.6:c.3997_3999del ENSP00000417554.2:p.Gly1333del
ENST00000477152.6:c.3922_3924del ENSP00000419988.2:p.Gly1308del
ENST00000478531.6:c.785-499_785-497del ENSP00000420412.2:n.785-499_785-497del
ENST00000489037.2:c.3922_3924del ENSP00000420781.2:p.Gly1308del
ENST00000493919.6:c.647-499_647-497del ENSP00000418819.2:n.647-499_647-497del
ENST00000494123.6:c.4000_4002del ENSP00000419103.2:p.Gly1334del
ENST00000497488.2:c.3112_3114del ENSP00000418986.2:p.Gly1038del
ENST00000618469.2:c.4000_4002del ENSP00000478114.2:p.Gly1334del
ENST00000634433.2:c.3877_3879del ENSP00000489431.2:p.Gly1293del
ENST00000644379.2:c.4000_4002del ENSP00000496570.2:p.Gly1334del
ENST00000644555.2:c.647-499_647-497del ENSP00000494614.2:n.647-499_647-497del
ENST00000652672.2:c.3859_3861del ENSP00000498906.2:p.Gly1287del
ENST00000484087.6:c.665-499_665-497del ENSP00000419481.2:n.665-499_665-497del
ENST00000700182.1:c.707-499_707-497del ENSP00000514849.1:n.707-499_707-497del
ENST00000357654.9:c.4000_4002del MANE Select ENSP00000350283.3:p.Gly1334del
ENST00000471181.7:c.4000_4002del ENSP00000418960.2:p.Gly1334del
ENST00000644379.1:c.321_323del
ENST00000352993.7:c.671-499_671-497del ENSP00000312236.5:n.671-499_671-497del
ENST00000354071.7:c.4000_4002del ENSP00000326002.7:p.Gly1334del
ENST00000357654.7:c.4000_4002del ENSP00000350283.3:p.Gly1334del
ENST00000461221.5:c.*3783_*3785del ENSP00000418548.1:n.*3783_*3785del
ENST00000461574.1:c.294_296del
ENST00000468300.5:c.788-499_788-497del ENSP00000417148.1:n.788-499_788-497del
ENST00000471181.6:c.4000_4002del ENSP00000418960.2:p.Gly1334del
ENST00000478531.5:c.785-499_785-497del ENSP00000420412.1:n.785-499_785-497del
ENST00000484087.5:c.410-499_410-497del ENSP00000419481.1:n.410-499_410-497del
ENST00000487825.5:c.413-499_413-497del ENSP00000418212.1:n.413-499_413-497del
ENST00000491747.6:c.788-499_788-497del ENSP00000420705.2:n.788-499_788-497del
ENST00000493795.5:c.3859_3861del ENSP00000418775.1:p.Gly1287del
ENST00000493919.5:c.647-499_647-497del ENSP00000418819.1:n.647-499_647-497del
ENST00000586385.5:c.5-27580_5-27578del ENSP00000465818.1:n.5-27580_5-27578del
ENST00000591534.5:c.-43-17010_-43-17008del ENSP00000467329.1:n.-43-17010_-43-17008del
ENST00000591849.5:c.-99+33740_-99+33742del ENSP00000465347.1:n.-99+33740_-99+33742del
NM_007294.3:c.4000_4002del , LRG_292t1:c.4000_4002del NP_009225.1:p.Gly1334del
NM_007297.3:c.3859_3861del NP_009228.2:p.Gly1287del
NM_007298.3:c.788-499_788-497del NP_009229.2:n.788-499_788-497del
NM_007299.3:c.788-499_788-497del NP_009230.2:n.788-499_788-497del
NM_007300.3:c.4000_4002del NP_009231.2:p.Gly1334del
NR_027676.1:n.4136_4138del
NM_007294.4:c.4000_4002del MANE Select NP_009225.1:p.Gly1334del
NM_007297.4:c.3859_3861del NP_009228.2:p.Gly1287del
NM_007299.4:c.788-499_788-497del NP_009230.2:n.788-499_788-497del
NM_007300.4:c.4000_4002del NP_009231.2:p.Gly1334del
NR_027676.2:n.4177_4179del