Canonical Allele Identifier: CA2580094446

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1740043
• ClinVar RCV Id: RCV002332380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076609del , CM000679.2:g.43076609del	GRCh38
NC_000017.10:g.41228626del , CM000679.1:g.41228626del	GRCh37
NC_000017.9:g.38482152del	NCBI36
NG_005905.2:g.141376del , LRG_292:g.141376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4361del	ENSP00000417241.2:p.Leu1454Ter
ENST00000470026.6:c.4364del	ENSP00000419274.2:p.Leu1455Ter
ENST00000473961.6:c.4238del	ENSP00000420201.2:p.Leu1413Ter
ENST00000476777.6:c.4358del	ENSP00000417554.2:p.Leu1453Ter
ENST00000477152.6:c.4286del	ENSP00000419988.2:p.Leu1429Ter
ENST00000478531.6:c.1052del	ENSP00000420412.2:p.Leu351Ter
ENST00000489037.2:c.4286del	ENSP00000420781.2:p.Leu1429Ter
ENST00000493919.6:c.914del	ENSP00000418819.2:p.Leu305Ter
ENST00000494123.6:c.4364del	ENSP00000419103.2:p.Leu1455Ter
ENST00000497488.2:c.3476del	ENSP00000418986.2:p.Leu1159Ter
ENST00000618469.2:c.4364del	ENSP00000478114.2:p.Leu1455Ter
ENST00000634433.2:c.4241del	ENSP00000489431.2:p.Leu1414Ter
ENST00000644379.2:c.4430del	ENSP00000496570.2:p.Leu1477Ter
ENST00000644555.2:c.914del	ENSP00000494614.2:p.Leu305Ter
ENST00000652672.2:c.4223del	ENSP00000498906.2:p.Leu1408Ter
ENST00000484087.6:c.926del	ENSP00000419481.2:p.Leu309Ter
ENST00000700182.1:c.971del	ENSP00000514849.1:p.Leu324Ter
ENST00000357654.9:c.4364del MANE Select	ENSP00000350283.3:p.Leu1455Ter
ENST00000471181.7:c.4427del	ENSP00000418960.2:p.Leu1476Ter
ENST00000644379.1:c.751del
ENST00000352993.7:c.938del	ENSP00000312236.5:p.Leu313Ter
ENST00000357654.7:c.4364del	ENSP00000350283.3:p.Leu1455Ter
ENST00000461221.5:c.*4147del	ENSP00000418548.1:n.*4147del
ENST00000461574.1:c.655del
ENST00000468300.5:c.1052del	ENSP00000417148.1:p.Leu351Ter
ENST00000471181.6:c.4427del	ENSP00000418960.2:p.Leu1476Ter
ENST00000478531.5:c.1052del	ENSP00000420412.1:p.Leu351Ter
ENST00000484087.5:c.677del	ENSP00000419481.1:p.Leu226Ter
ENST00000487825.5:c.680del	ENSP00000418212.1:p.Leu227Ter
ENST00000491747.6:c.1052del	ENSP00000420705.2:p.Leu351Ter
ENST00000493795.5:c.4223del	ENSP00000418775.1:p.Leu1408Ter
ENST00000493919.5:c.914del	ENSP00000418819.1:p.Leu305Ter
ENST00000586385.5:c.5-12657del	ENSP00000465818.1:n.5-12657del
ENST00000591534.5:c.-43-2087del	ENSP00000467329.1:n.-43-2087del
ENST00000591849.5:c.-98-26418del	ENSP00000465347.1:n.-98-26418del
ENST00000621897.1:n.255del
NM_007294.3:c.4364del , LRG_292t1:c.4364del	NP_009225.1:p.Leu1455Ter
NM_007297.3:c.4223del	NP_009228.2:p.Leu1408Ter
NM_007298.3:c.1052del	NP_009229.2:p.Leu351Ter
NM_007299.3:c.1052del	NP_009230.2:p.Leu351Ter
NM_007300.3:c.4427del	NP_009231.2:p.Leu1476Ter
NR_027676.1:n.4500del
NM_007294.4:c.4364del MANE Select	NP_009225.1:p.Leu1455Ter
NM_007297.4:c.4223del	NP_009228.2:p.Leu1408Ter
NM_007299.4:c.1052del	NP_009230.2:p.Leu351Ter
NM_007300.4:c.4427del	NP_009231.2:p.Leu1476Ter
NR_027676.2:n.4541del