Canonical Allele Identifier: CA658684087

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 496378
• ClinVar RCV Id: RCV000586249
• dbSNP Id: rs1555584251
• MyVariant Identifiers: chr17:g.41234567del (hg19) ; chr17:g.43082550del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43082550del , CM000679.2:g.43082550del	GRCh38
NC_000017.10:g.41234567del , CM000679.1:g.41234567del	GRCh37
NC_000017.9:g.38488093del	NCBI36
NG_005905.2:g.135434del , LRG_292:g.135434del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4211del	ENSP00000417241.2:p.Leu1404ArgfsTer2
ENST00000470026.6:c.4211del	ENSP00000419274.2:p.Leu1404ArgfsTer2
ENST00000473961.6:c.4085del	ENSP00000420201.2:p.Leu1362ArgfsTer2
ENST00000476777.6:c.4205del	ENSP00000417554.2:p.Leu1402ArgfsTer2
ENST00000477152.6:c.4133del	ENSP00000419988.2:p.Leu1378ArgfsTer2
ENST00000478531.6:c.899del	ENSP00000420412.2:p.Leu300ArgfsTer2
ENST00000489037.2:c.4133del	ENSP00000420781.2:p.Leu1378ArgfsTer2
ENST00000493919.6:c.761del	ENSP00000418819.2:p.Leu254ArgfsTer2
ENST00000494123.6:c.4211del	ENSP00000419103.2:p.Leu1404ArgfsTer2
ENST00000497488.2:c.3323del	ENSP00000418986.2:p.Leu1108ArgfsTer2
ENST00000618469.2:c.4211del	ENSP00000478114.2:p.Leu1404ArgfsTer2
ENST00000634433.2:c.4088del	ENSP00000489431.2:p.Leu1363ArgfsTer2
ENST00000644379.2:c.4211del	ENSP00000496570.2:p.Leu1404ArgfsTer2
ENST00000644555.2:c.761del	ENSP00000494614.2:p.Leu254ArgfsTer2
ENST00000652672.2:c.4070del	ENSP00000498906.2:p.Leu1357ArgfsTer2
ENST00000484087.6:c.776del	ENSP00000419481.2:p.Leu259ArgfsTer2
ENST00000700182.1:c.821del	ENSP00000514849.1:p.Leu274ArgfsTer2
ENST00000357654.9:c.4211del MANE Select	ENSP00000350283.3:p.Leu1404ArgfsTer2
ENST00000471181.7:c.4211del	ENSP00000418960.2:p.Leu1404ArgfsTer2
ENST00000644379.1:c.532del
ENST00000352993.7:c.785del	ENSP00000312236.5:p.Leu262ArgfsTer2
ENST00000357654.7:c.4211del	ENSP00000350283.3:p.Leu1404ArgfsTer2
ENST00000461221.5:c.*3994del	ENSP00000418548.1:n.*3994del
ENST00000461574.1:c.505del
ENST00000468300.5:c.902del	ENSP00000417148.1:p.Leu301ArgfsTer2
ENST00000471181.6:c.4211del	ENSP00000418960.2:p.Leu1404ArgfsTer2
ENST00000478531.5:c.899del	ENSP00000420412.1:p.Leu300ArgfsTer2
ENST00000484087.5:c.524del	ENSP00000419481.1:p.Leu175ArgfsTer2
ENST00000487825.5:c.527del	ENSP00000418212.1:p.Leu176ArgfsTer2
ENST00000491747.6:c.902del	ENSP00000420705.2:p.Leu301ArgfsTer2
ENST00000493795.5:c.4070del	ENSP00000418775.1:p.Leu1357ArgfsTer2
ENST00000493919.5:c.761del	ENSP00000418819.1:p.Leu254ArgfsTer2
ENST00000586385.5:c.5-18599del	ENSP00000465818.1:n.5-18599del
ENST00000591534.5:c.-43-8029del	ENSP00000467329.1:n.-43-8029del
ENST00000591849.5:c.-98-32360del	ENSP00000465347.1:n.-98-32360del
ENST00000621897.1:n.105del
NM_007294.3:c.4211del , LRG_292t1:c.4211del	NP_009225.1:p.Leu1404ArgfsTer2
NM_007297.3:c.4070del	NP_009228.2:p.Leu1357ArgfsTer2
NM_007298.3:c.902del	NP_009229.2:p.Leu301ArgfsTer2
NM_007299.3:c.902del	NP_009230.2:p.Leu301ArgfsTer2
NM_007300.3:c.4211del	NP_009231.2:p.Leu1404ArgfsTer2
NR_027676.1:n.4347del
NM_007294.4:c.4211del MANE Select	NP_009225.1:p.Leu1404ArgfsTer2
NM_007297.4:c.4070del	NP_009228.2:p.Leu1357ArgfsTer2
NM_007299.4:c.902del	NP_009230.2:p.Leu301ArgfsTer2
NM_007300.4:c.4211del	NP_009231.2:p.Leu1404ArgfsTer2
NR_027676.2:n.4388del