Canonical Allele Identifier: CA891842294

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 660515
• ClinVar RCV Id: RCV000817724
• dbSNP Id: rs1597860092

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091556_43091583dup , CM000679.2:g.43091556_43091583dup	GRCh38
NC_000017.10:g.41243573_41243600dup , CM000679.1:g.41243573_41243600dup	GRCh37
NC_000017.9:g.38497099_38497126dup	NCBI36
NG_005905.2:g.126402_126429dup , LRG_292:g.126402_126429dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354071.8:n.4013_4040dup
ENST00000461574.2:c.3949_3976dup	ENSP00000417241.2:p.His1326LeufsTer13
ENST00000470026.6:c.3949_3976dup	ENSP00000419274.2:p.His1326LeufsTer13
ENST00000473961.6:c.3823_3850dup	ENSP00000420201.2:p.His1284LeufsTer13
ENST00000476777.6:c.3946_3973dup	ENSP00000417554.2:p.His1325LeufsTer13
ENST00000477152.6:c.3871_3898dup	ENSP00000419988.2:p.His1300LeufsTer13
ENST00000478531.6:c.785-550_785-523dup	ENSP00000420412.2:n.785-550_785-523dup
ENST00000489037.2:c.3871_3898dup	ENSP00000420781.2:p.His1300LeufsTer13
ENST00000493919.6:c.647-550_647-523dup	ENSP00000418819.2:n.647-550_647-523dup
ENST00000494123.6:c.3949_3976dup	ENSP00000419103.2:p.His1326LeufsTer13
ENST00000497488.2:c.3061_3088dup	ENSP00000418986.2:p.His1030LeufsTer13
ENST00000618469.2:c.3949_3976dup	ENSP00000478114.2:p.His1326LeufsTer13
ENST00000634433.2:c.3826_3853dup	ENSP00000489431.2:p.His1285LeufsTer13
ENST00000644379.2:c.3949_3976dup	ENSP00000496570.2:p.His1326LeufsTer13
ENST00000644555.2:c.647-550_647-523dup	ENSP00000494614.2:n.647-550_647-523dup
ENST00000652672.2:c.3808_3835dup	ENSP00000498906.2:p.His1279LeufsTer13
ENST00000484087.6:c.665-550_665-523dup	ENSP00000419481.2:n.665-550_665-523dup
ENST00000700182.1:c.707-550_707-523dup	ENSP00000514849.1:n.707-550_707-523dup
ENST00000357654.9:c.3949_3976dup MANE Select	ENSP00000350283.3:p.His1326LeufsTer13
ENST00000471181.7:c.3949_3976dup	ENSP00000418960.2:p.His1326LeufsTer13
ENST00000644379.1:c.270_297dup
ENST00000352993.7:c.671-550_671-523dup	ENSP00000312236.5:n.671-550_671-523dup
ENST00000354071.7:c.3949_3976dup	ENSP00000326002.7:p.His1326LeufsTer13
ENST00000357654.7:c.3949_3976dup	ENSP00000350283.3:p.His1326LeufsTer13
ENST00000461221.5:c.*3732_*3759dup	ENSP00000418548.1:n.*3732_*3759dup
ENST00000461574.1:c.243_270dup
ENST00000468300.5:c.788-550_788-523dup	ENSP00000417148.1:n.788-550_788-523dup
ENST00000471181.6:c.3949_3976dup	ENSP00000418960.2:p.His1326LeufsTer13
ENST00000478531.5:c.785-550_785-523dup	ENSP00000420412.1:n.785-550_785-523dup
ENST00000484087.5:c.410-550_410-523dup	ENSP00000419481.1:n.410-550_410-523dup
ENST00000487825.5:c.413-550_413-523dup	ENSP00000418212.1:n.413-550_413-523dup
ENST00000491747.6:c.788-550_788-523dup	ENSP00000420705.2:n.788-550_788-523dup
ENST00000493795.5:c.3808_3835dup	ENSP00000418775.1:p.His1279LeufsTer13
ENST00000493919.5:c.647-550_647-523dup	ENSP00000418819.1:n.647-550_647-523dup
ENST00000586385.5:c.5-27631_5-27604dup	ENSP00000465818.1:n.5-27631_5-27604dup
ENST00000591534.5:c.-43-17061_-43-17034dup	ENSP00000467329.1:n.-43-17061_-43-17034du...
ENST00000591849.5:c.-99+33689_-99+33716dup	ENSP00000465347.1:n.-99+33689_-99+33716du...
NM_007294.3:c.3949_3976dup , LRG_292t1:c.3949_3976dup	NP_009225.1:p.His1326LeufsTer13
NM_007297.3:c.3808_3835dup	NP_009228.2:p.His1279LeufsTer13
NM_007298.3:c.788-550_788-523dup	NP_009229.2:n.788-550_788-523dup
NM_007299.3:c.788-550_788-523dup	NP_009230.2:n.788-550_788-523dup
NM_007300.3:c.3949_3976dup	NP_009231.2:p.His1326LeufsTer13
NR_027676.1:n.4085_4112dup
NM_007294.4:c.3949_3976dup MANE Select	NP_009225.1:p.His1326LeufsTer13
NM_007297.4:c.3808_3835dup	NP_009228.2:p.His1279LeufsTer13
NM_007299.4:c.788-550_788-523dup	NP_009230.2:n.788-550_788-523dup
NM_007300.4:c.3949_3976dup	NP_009231.2:p.His1326LeufsTer13
NR_027676.2:n.4126_4153dup