Canonical Allele Identifier: CA658825033

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 548162
• ClinVar RCV Id: RCV000660906
• dbSNP Id: rs1555586639
• MyVariant Identifiers: chr17:g.41243529_41243530dup (hg19) ; chr17:g.43091512_43091513dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091512_43091513dup , CM000679.2:g.43091512_43091513dup	GRCh38
NC_000017.10:g.41243529_41243530dup , CM000679.1:g.41243529_41243530dup	GRCh37
NC_000017.9:g.38497055_38497056dup	NCBI36
NG_005905.2:g.126471_126472dup , LRG_292:g.126471_126472dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4082_4083dup
ENST00000461574.2:c.4018_4019dup	ENSP00000417241.2:p.Leu1340PhefsTer27
ENST00000470026.6:c.4018_4019dup	ENSP00000419274.2:p.Leu1340PhefsTer27
ENST00000473961.6:c.3892_3893dup	ENSP00000420201.2:p.Leu1298PhefsTer27
ENST00000476777.6:c.4015_4016dup	ENSP00000417554.2:p.Leu1339PhefsTer27
ENST00000477152.6:c.3940_3941dup	ENSP00000419988.2:p.Leu1314PhefsTer27
ENST00000478531.6:c.785-481_785-480dup	ENSP00000420412.2:n.785-481_785-480dup
ENST00000489037.2:c.3940_3941dup	ENSP00000420781.2:p.Leu1314PhefsTer27
ENST00000493919.6:c.647-481_647-480dup	ENSP00000418819.2:n.647-481_647-480dup
ENST00000494123.6:c.4018_4019dup	ENSP00000419103.2:p.Leu1340PhefsTer27
ENST00000497488.2:c.3130_3131dup	ENSP00000418986.2:p.Leu1044PhefsTer27
ENST00000618469.2:c.4018_4019dup	ENSP00000478114.2:p.Leu1340PhefsTer27
ENST00000634433.2:c.3895_3896dup	ENSP00000489431.2:p.Leu1299PhefsTer27
ENST00000644379.2:c.4018_4019dup	ENSP00000496570.2:p.Leu1340PhefsTer27
ENST00000644555.2:c.647-481_647-480dup	ENSP00000494614.2:n.647-481_647-480dup
ENST00000652672.2:c.3877_3878dup	ENSP00000498906.2:p.Leu1293PhefsTer27
ENST00000484087.6:c.665-481_665-480dup	ENSP00000419481.2:n.665-481_665-480dup
ENST00000700182.1:c.707-481_707-480dup	ENSP00000514849.1:n.707-481_707-480dup
ENST00000357654.9:c.4018_4019dup MANE Select	ENSP00000350283.3:p.Leu1340PhefsTer27
ENST00000471181.7:c.4018_4019dup	ENSP00000418960.2:p.Leu1340PhefsTer27
ENST00000644379.1:c.339_340dup
ENST00000352993.7:c.671-481_671-480dup	ENSP00000312236.5:n.671-481_671-480dup
ENST00000354071.7:c.4018_4019dup	ENSP00000326002.7:p.Leu1340PhefsTer27
ENST00000357654.7:c.4018_4019dup	ENSP00000350283.3:p.Leu1340PhefsTer27
ENST00000461221.5:c.*3801_*3802dup	ENSP00000418548.1:n.*3801_*3802dup
ENST00000461574.1:c.312_313dup
ENST00000468300.5:c.788-481_788-480dup	ENSP00000417148.1:n.788-481_788-480dup
ENST00000471181.6:c.4018_4019dup	ENSP00000418960.2:p.Leu1340PhefsTer27
ENST00000478531.5:c.785-481_785-480dup	ENSP00000420412.1:n.785-481_785-480dup
ENST00000484087.5:c.410-481_410-480dup	ENSP00000419481.1:n.410-481_410-480dup
ENST00000487825.5:c.413-481_413-480dup	ENSP00000418212.1:n.413-481_413-480dup
ENST00000491747.6:c.788-481_788-480dup	ENSP00000420705.2:n.788-481_788-480dup
ENST00000493795.5:c.3877_3878dup	ENSP00000418775.1:p.Leu1293PhefsTer27
ENST00000493919.5:c.647-481_647-480dup	ENSP00000418819.1:n.647-481_647-480dup
ENST00000586385.5:c.5-27562_5-27561dup	ENSP00000465818.1:n.5-27562_5-27561dup
ENST00000591534.5:c.-43-16992_-43-16991dup	ENSP00000467329.1:n.-43-16992_-43-16991dup
ENST00000591849.5:c.-99+33758_-99+33759dup	ENSP00000465347.1:n.-99+33758_-99+33759dup
NM_007294.3:c.4018_4019dup , LRG_292t1:c.4018_4019dup	NP_009225.1:p.Leu1340PhefsTer27
NM_007297.3:c.3877_3878dup	NP_009228.2:p.Leu1293PhefsTer27
NM_007298.3:c.788-481_788-480dup	NP_009229.2:n.788-481_788-480dup
NM_007299.3:c.788-481_788-480dup	NP_009230.2:n.788-481_788-480dup
NM_007300.3:c.4018_4019dup	NP_009231.2:p.Leu1340PhefsTer27
NR_027676.1:n.4154_4155dup
NM_007294.4:c.4018_4019dup MANE Select	NP_009225.1:p.Leu1340PhefsTer27
NM_007297.4:c.3877_3878dup	NP_009228.2:p.Leu1293PhefsTer27
NM_007299.4:c.788-481_788-480dup	NP_009230.2:n.788-481_788-480dup
NM_007300.4:c.4018_4019dup	NP_009231.2:p.Leu1340PhefsTer27
NR_027676.2:n.4195_4196dup