Canonical Allele Identifier: CA645578317

Gene: BRCA1

Linked Data

• COSMIC: COSM1325059

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091968_43091969del , CM000679.2:g.43091968_43091969del	GRCh38
NC_000017.10:g.41243985_41243986del , CM000679.1:g.41243985_41243986del	GRCh37
NC_000017.9:g.38497511_38497512del	NCBI36
NG_005905.2:g.126015_126016del , LRG_292:g.126015_126016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.3626_3627del
ENST00000461574.2:c.3562_3563del	ENSP00000417241.2:p.Arg1188GlufsTer3
ENST00000470026.6:c.3562_3563del	ENSP00000419274.2:p.Arg1188GlufsTer3
ENST00000473961.6:c.3436_3437del	ENSP00000420201.2:p.Arg1146GlufsTer3
ENST00000476777.6:c.3559_3560del	ENSP00000417554.2:p.Arg1187GlufsTer3
ENST00000477152.6:c.3484_3485del	ENSP00000419988.2:p.Arg1162GlufsTer3
ENST00000478531.6:c.785-937_785-936del	ENSP00000420412.2:n.785-937_785-936del
ENST00000489037.2:c.3484_3485del	ENSP00000420781.2:p.Arg1162GlufsTer3
ENST00000493919.6:c.647-937_647-936del	ENSP00000418819.2:n.647-937_647-936del
ENST00000494123.6:c.3562_3563del	ENSP00000419103.2:p.Arg1188GlufsTer3
ENST00000497488.2:c.2674_2675del	ENSP00000418986.2:p.Arg892GlufsTer3
ENST00000618469.2:c.3562_3563del	ENSP00000478114.2:p.Arg1188GlufsTer3
ENST00000634433.2:c.3439_3440del	ENSP00000489431.2:p.Arg1147GlufsTer3
ENST00000644379.2:c.3562_3563del	ENSP00000496570.2:p.Arg1188GlufsTer3
ENST00000644555.2:c.647-937_647-936del	ENSP00000494614.2:n.647-937_647-936del
ENST00000652672.2:c.3421_3422del	ENSP00000498906.2:p.Arg1141GlufsTer3
ENST00000484087.6:c.665-937_665-936del	ENSP00000419481.2:n.665-937_665-936del
ENST00000700182.1:c.707-937_707-936del	ENSP00000514849.1:n.707-937_707-936del
ENST00000357654.9:c.3562_3563del MANE Select	ENSP00000350283.3:p.Arg1188GlufsTer3
ENST00000471181.7:c.3562_3563del	ENSP00000418960.2:p.Arg1188GlufsTer3
ENST00000352993.7:c.671-937_671-936del	ENSP00000312236.5:n.671-937_671-936del
ENST00000354071.7:c.3562_3563del	ENSP00000326002.7:p.Arg1188GlufsTer3
ENST00000357654.7:c.3562_3563del	ENSP00000350283.3:p.Arg1188GlufsTer3
ENST00000461221.5:c.*3345_*3346del	ENSP00000418548.1:n.*3345_*3346del
ENST00000468300.5:c.788-937_788-936del	ENSP00000417148.1:n.788-937_788-936del
ENST00000471181.6:c.3562_3563del	ENSP00000418960.2:p.Arg1188GlufsTer3
ENST00000478531.5:c.785-937_785-936del	ENSP00000420412.1:n.785-937_785-936del
ENST00000484087.5:c.410-937_410-936del	ENSP00000419481.1:n.410-937_410-936del
ENST00000487825.5:c.413-937_413-936del	ENSP00000418212.1:n.413-937_413-936del
ENST00000491747.6:c.788-937_788-936del	ENSP00000420705.2:n.788-937_788-936del
ENST00000493795.5:c.3421_3422del	ENSP00000418775.1:p.Arg1141GlufsTer3
ENST00000493919.5:c.647-937_647-936del	ENSP00000418819.1:n.647-937_647-936del
ENST00000586385.5:c.5-28018_5-28017del	ENSP00000465818.1:n.5-28018_5-28017del
ENST00000591534.5:c.-43-17448_-43-17447del	ENSP00000467329.1:n.-43-17448_-43-17447del
ENST00000591849.5:c.-99+33302_-99+33303del	ENSP00000465347.1:n.-99+33302_-99+33303del
NM_007294.3:c.3562_3563del , LRG_292t1:c.3562_3563del	NP_009225.1:p.Arg1188GlufsTer3
NM_007297.3:c.3421_3422del	NP_009228.2:p.Arg1141GlufsTer3
NM_007298.3:c.788-937_788-936del	NP_009229.2:n.788-937_788-936del
NM_007299.3:c.788-937_788-936del	NP_009230.2:n.788-937_788-936del
NM_007300.3:c.3562_3563del	NP_009231.2:p.Arg1188GlufsTer3
NR_027676.1:n.3698_3699del
NM_007294.4:c.3562_3563del MANE Select	NP_009225.1:p.Arg1188GlufsTer3
NM_007297.4:c.3421_3422del	NP_009228.2:p.Arg1141GlufsTer3
NM_007299.4:c.788-937_788-936del	NP_009230.2:n.788-937_788-936del
NM_007300.4:c.3562_3563del	NP_009231.2:p.Arg1188GlufsTer3
NR_027676.2:n.3739_3740del