Canonical Allele Identifier: CA2580094050

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2120181
• ClinVar RCV Id: RCV003059252

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43091437_43091438del , CM000679.2:g.43091437_43091438del	GRCh38
NC_000017.10:g.41243454_41243455del , CM000679.1:g.41243454_41243455del	GRCh37
NC_000017.9:g.38496980_38496981del	NCBI36
NG_005905.2:g.126546_126547del , LRG_292:g.126546_126547del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.4157_4158del
ENST00000461574.2:c.4093_4094del	ENSP00000417241.2:p.Leu1365ArgfsTer2
ENST00000470026.6:c.4093_4094del	ENSP00000419274.2:p.Leu1365ArgfsTer2
ENST00000473961.6:c.3967_3968del	ENSP00000420201.2:p.Leu1323ArgfsTer2
ENST00000476777.6:c.4090_4091del	ENSP00000417554.2:p.Leu1364ArgfsTer2
ENST00000477152.6:c.4015_4016del	ENSP00000419988.2:p.Leu1339ArgfsTer2
ENST00000478531.6:c.785-406_785-405del	ENSP00000420412.2:n.785-406_785-405del
ENST00000489037.2:c.4015_4016del	ENSP00000420781.2:p.Leu1339ArgfsTer2
ENST00000493919.6:c.647-406_647-405del	ENSP00000418819.2:n.647-406_647-405del
ENST00000494123.6:c.4093_4094del	ENSP00000419103.2:p.Leu1365ArgfsTer2
ENST00000497488.2:c.3205_3206del	ENSP00000418986.2:p.Leu1069ArgfsTer2
ENST00000618469.2:c.4093_4094del	ENSP00000478114.2:p.Leu1365ArgfsTer2
ENST00000634433.2:c.3970_3971del	ENSP00000489431.2:p.Leu1324ArgfsTer2
ENST00000644379.2:c.4093_4094del	ENSP00000496570.2:p.Leu1365ArgfsTer2
ENST00000644555.2:c.647-406_647-405del	ENSP00000494614.2:n.647-406_647-405del
ENST00000652672.2:c.3952_3953del	ENSP00000498906.2:p.Leu1318ArgfsTer2
ENST00000484087.6:c.665-406_665-405del	ENSP00000419481.2:n.665-406_665-405del
ENST00000700182.1:c.707-406_707-405del	ENSP00000514849.1:n.707-406_707-405del
ENST00000357654.9:c.4093_4094del MANE Select	ENSP00000350283.3:p.Leu1365ArgfsTer2
ENST00000471181.7:c.4093_4094del	ENSP00000418960.2:p.Leu1365ArgfsTer2
ENST00000644379.1:c.414_415del
ENST00000352993.7:c.671-406_671-405del	ENSP00000312236.5:n.671-406_671-405del
ENST00000354071.7:c.4093_4094del	ENSP00000326002.7:p.Leu1365ArgfsTer15
ENST00000357654.7:c.4093_4094del	ENSP00000350283.3:p.Leu1365ArgfsTer2
ENST00000461221.5:c.*3876_*3877del	ENSP00000418548.1:n.*3876_*3877del
ENST00000461574.1:c.387_388del
ENST00000468300.5:c.788-406_788-405del	ENSP00000417148.1:n.788-406_788-405del
ENST00000471181.6:c.4093_4094del	ENSP00000418960.2:p.Leu1365ArgfsTer2
ENST00000478531.5:c.785-406_785-405del	ENSP00000420412.1:n.785-406_785-405del
ENST00000484087.5:c.410-406_410-405del	ENSP00000419481.1:n.410-406_410-405del
ENST00000487825.5:c.413-406_413-405del	ENSP00000418212.1:n.413-406_413-405del
ENST00000491747.6:c.788-406_788-405del	ENSP00000420705.2:n.788-406_788-405del
ENST00000493795.5:c.3952_3953del	ENSP00000418775.1:p.Leu1318ArgfsTer2
ENST00000493919.5:c.647-406_647-405del	ENSP00000418819.1:n.647-406_647-405del
ENST00000586385.5:c.5-27487_5-27486del	ENSP00000465818.1:n.5-27487_5-27486del
ENST00000591534.5:c.-43-16917_-43-16916del	ENSP00000467329.1:n.-43-16917_-43-16916del
ENST00000591849.5:c.-99+33833_-99+33834del	ENSP00000465347.1:n.-99+33833_-99+33834del
NM_007294.3:c.4093_4094del , LRG_292t1:c.4093_4094del	NP_009225.1:p.Leu1365ArgfsTer2
NM_007297.3:c.3952_3953del	NP_009228.2:p.Leu1318ArgfsTer2
NM_007298.3:c.788-406_788-405del	NP_009229.2:n.788-406_788-405del
NM_007299.3:c.788-406_788-405del	NP_009230.2:n.788-406_788-405del
NM_007300.3:c.4093_4094del	NP_009231.2:p.Leu1365ArgfsTer2
NR_027676.1:n.4229_4230del
NM_007294.4:c.4093_4094del MANE Select	NP_009225.1:p.Leu1365ArgfsTer2
NM_007297.4:c.3952_3953del	NP_009228.2:p.Leu1318ArgfsTer2
NM_007299.4:c.788-406_788-405del	NP_009230.2:n.788-406_788-405del
NM_007300.4:c.4093_4094del	NP_009231.2:p.Leu1365ArgfsTer2
NR_027676.2:n.4270_4271del