Canonical Allele Identifier: CA919844191

Gene: BRCA1

Linked Data

• dbSNP Id: rs1567758882

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43049122_43049137dup , CM000679.2:g.43049122_43049137dup	GRCh38
NC_000017.10:g.41201139_41201154dup , CM000679.1:g.41201139_41201154dup	GRCh37
NC_000017.9:g.38454665_38454680dup	NCBI36
NG_005905.2:g.168847_168862dup , LRG_292:g.168847_168862dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5387_5402dup	ENSP00000417241.2:p.Gly1802IlefsTer32
ENST00000470026.6:c.5390_5405dup	ENSP00000419274.2:p.Gly1803IlefsTer32
ENST00000473961.6:c.5264_5279dup	ENSP00000420201.2:p.Gly1761IlefsTer32
ENST00000476777.6:c.5384_5399dup	ENSP00000417554.2:p.Gly1801IlefsTer32
ENST00000477152.6:c.5312_5327dup	ENSP00000419988.2:p.Gly1777IlefsTer32
ENST00000478531.6:c.2078_2093dup	ENSP00000420412.2:p.Gly699IlefsTer32
ENST00000489037.2:c.5312_5327dup	ENSP00000420781.2:p.Gly1777IlefsTer32
ENST00000493919.6:c.1940_1955dup	ENSP00000418819.2:p.Gly653IlefsTer32
ENST00000494123.6:c.5390_5405dup	ENSP00000419103.2:p.Gly1803IlefsTer32
ENST00000497488.2:c.4502_4517dup	ENSP00000418986.2:p.Gly1507IlefsTer32
ENST00000618469.2:c.5390_5405dup	ENSP00000478114.2:p.Gly1803IlefsTer32
ENST00000634433.2:c.5267_5282dup	ENSP00000489431.2:p.Gly1762IlefsTer32
ENST00000644379.2:c.5456_5471dup	ENSP00000496570.2:p.Gly1825IlefsTer32
ENST00000644555.2:c.1940_1955dup	ENSP00000494614.2:p.Gly653IlefsTer32
ENST00000652672.2:c.5249_5264dup	ENSP00000498906.2:p.Gly1756IlefsTer32
ENST00000484087.6:c.1952_1967dup	ENSP00000419481.2:p.Gly657IlefsTer32
ENST00000700081.1:n.1273_1288dup
ENST00000357654.9:c.5390_5405dup MANE Select	ENSP00000350283.3:p.Gly1803IlefsTer32
ENST00000471181.7:c.5453_5468dup	ENSP00000418960.2:p.Gly1824IlefsTer32
ENST00000644379.1:c.1777_1792dup
ENST00000352993.7:c.1964_1979dup	ENSP00000312236.5:p.Gly661IlefsTer32
ENST00000357654.7:c.5390_5405dup	ENSP00000350283.3:p.Gly1803IlefsTer32
ENST00000461221.5:c.*5173_*5188dup	ENSP00000418548.1:n.*5173_*5188dup
ENST00000468300.5:c.2021-1434_2021-1419dup	ENSP00000417148.1:n.2021-1434_2021-1419du...
ENST00000471181.6:c.5453_5468dup	ENSP00000418960.2:p.Gly1824IlefsTer32
ENST00000491747.6:c.2078_2093dup	ENSP00000420705.2:p.Gly699IlefsTer32
ENST00000493795.5:c.5249_5264dup	ENSP00000418775.1:p.Gly1756IlefsTer32
ENST00000586385.5:c.320_335dup	ENSP00000465818.1:p.Gly113IlefsTer32
ENST00000591534.5:c.863_878dup	ENSP00000467329.1:p.Gly294IlefsTer32
ENST00000591849.5:c.89_104dup	ENSP00000465347.1:p.Gly36IlefsTer32
NM_007294.3:c.5390_5405dup , LRG_292t1:c.5390_5405dup	NP_009225.1:p.Gly1803IlefsTer32
NM_007297.3:c.5249_5264dup	NP_009228.2:p.Gly1756IlefsTer32
NM_007298.3:c.2078_2093dup	NP_009229.2:p.Gly699IlefsTer32
NM_007299.3:c.2021-1434_2021-1419dup	NP_009230.2:n.2021-1434_2021-1419dup
NM_007300.3:c.5453_5468dup	NP_009231.2:p.Gly1824IlefsTer32
NR_027676.1:n.5526_5541dup
NM_007294.4:c.5390_5405dup MANE Select	NP_009225.1:p.Gly1803IlefsTer32
NM_007297.4:c.5249_5264dup	NP_009228.2:p.Gly1756IlefsTer32
NM_007299.4:c.2021-1434_2021-1419dup	NP_009230.2:n.2021-1434_2021-1419dup
NM_007300.4:c.5453_5468dup	NP_009231.2:p.Gly1824IlefsTer32
NR_027676.2:n.5567_5582dup