Canonical Allele Identifier: CA2963271637
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43091575_43091578del , CM000679.2:g.43091575_43091578del GRCh38
NC_000017.10:g.41243592_41243595del , CM000679.1:g.41243592_41243595del GRCh37
NC_000017.9:g.38497118_38497121del NCBI36
NG_005905.2:g.126408_126411del , LRG_292:g.126408_126411del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354071.8:n.4019_4022del
ENST00000461574.2:c.3955_3958del ENSP00000417241.2:p.Gly1319LeufsTer5
ENST00000470026.6:c.3955_3958del ENSP00000419274.2:p.Gly1319LeufsTer5
ENST00000473961.6:c.3829_3832del ENSP00000420201.2:p.Gly1277LeufsTer5
ENST00000476777.6:c.3952_3955del ENSP00000417554.2:p.Gly1318LeufsTer5
ENST00000477152.6:c.3877_3880del ENSP00000419988.2:p.Gly1293LeufsTer5
ENST00000478531.6:c.785-544_785-541del ENSP00000420412.2:n.785-544_785-541del
ENST00000489037.2:c.3877_3880del ENSP00000420781.2:p.Gly1293LeufsTer5
ENST00000493919.6:c.647-544_647-541del ENSP00000418819.2:n.647-544_647-541del
ENST00000494123.6:c.3955_3958del ENSP00000419103.2:p.Gly1319LeufsTer5
ENST00000497488.2:c.3067_3070del ENSP00000418986.2:p.Gly1023LeufsTer5
ENST00000618469.2:c.3955_3958del ENSP00000478114.2:p.Gly1319LeufsTer5
ENST00000634433.2:c.3832_3835del ENSP00000489431.2:p.Gly1278LeufsTer5
ENST00000644379.2:c.3955_3958del ENSP00000496570.2:p.Gly1319LeufsTer5
ENST00000644555.2:c.647-544_647-541del ENSP00000494614.2:n.647-544_647-541del
ENST00000652672.2:c.3814_3817del ENSP00000498906.2:p.Gly1272LeufsTer5
ENST00000484087.6:c.665-544_665-541del ENSP00000419481.2:n.665-544_665-541del
ENST00000700182.1:c.707-544_707-541del ENSP00000514849.1:n.707-544_707-541del
ENST00000357654.9:c.3955_3958del MANE Select ENSP00000350283.3:p.Gly1319LeufsTer5
ENST00000471181.7:c.3955_3958del ENSP00000418960.2:p.Gly1319LeufsTer5
ENST00000644379.1:c.276_279del
ENST00000352993.7:c.671-544_671-541del ENSP00000312236.5:n.671-544_671-541del
ENST00000354071.7:c.3955_3958del ENSP00000326002.7:p.Gly1319LeufsTer5
ENST00000357654.7:c.3955_3958del ENSP00000350283.3:p.Gly1319LeufsTer5
ENST00000461221.5:c.*3738_*3741del ENSP00000418548.1:n.*3738_*3741del
ENST00000461574.1:c.249_252del
ENST00000468300.5:c.788-544_788-541del ENSP00000417148.1:n.788-544_788-541del
ENST00000471181.6:c.3955_3958del ENSP00000418960.2:p.Gly1319LeufsTer5
ENST00000478531.5:c.785-544_785-541del ENSP00000420412.1:n.785-544_785-541del
ENST00000484087.5:c.410-544_410-541del ENSP00000419481.1:n.410-544_410-541del
ENST00000487825.5:c.413-544_413-541del ENSP00000418212.1:n.413-544_413-541del
ENST00000491747.6:c.788-544_788-541del ENSP00000420705.2:n.788-544_788-541del
ENST00000493795.5:c.3814_3817del ENSP00000418775.1:p.Gly1272LeufsTer5
ENST00000493919.5:c.647-544_647-541del ENSP00000418819.1:n.647-544_647-541del
ENST00000586385.5:c.5-27625_5-27622del ENSP00000465818.1:n.5-27625_5-27622del
ENST00000591534.5:c.-43-17055_-43-17052del ENSP00000467329.1:n.-43-17055_-43-17052del
ENST00000591849.5:c.-99+33695_-99+33698del ENSP00000465347.1:n.-99+33695_-99+33698del
NM_007294.3:c.3955_3958del , LRG_292t1:c.3955_3958del NP_009225.1:p.Gly1319LeufsTer5
NM_007297.3:c.3814_3817del NP_009228.2:p.Gly1272LeufsTer5
NM_007298.3:c.788-544_788-541del NP_009229.2:n.788-544_788-541del
NM_007299.3:c.788-544_788-541del NP_009230.2:n.788-544_788-541del
NM_007300.3:c.3955_3958del NP_009231.2:p.Gly1319LeufsTer5
NR_027676.1:n.4091_4094del
NM_007294.4:c.3955_3958del MANE Select NP_009225.1:p.Gly1319LeufsTer5
NM_007297.4:c.3814_3817del NP_009228.2:p.Gly1272LeufsTer5
NM_007299.4:c.788-544_788-541del NP_009230.2:n.788-544_788-541del
NM_007300.4:c.3955_3958del NP_009231.2:p.Gly1319LeufsTer5
NR_027676.2:n.4132_4135del