Canonical Allele Identifier: CA10585905

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 252389
• ClinVar RCV Id: RCV000239252
• dbSNP Id: rs879255287
• MyVariant Identifiers: chr17:g.41197756_41197763del (hg19) ; chr17:g.43045739_43045746del (hg38)
• PubMed: PMID:26295337

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045740_43045747del , CM000679.2:g.43045740_43045747del	GRCh38
NC_000017.10:g.41197757_41197764del , CM000679.1:g.41197757_41197764del	GRCh37
NC_000017.9:g.38451283_38451290del	NCBI36
NG_005905.2:g.172238_172245del , LRG_292:g.172238_172245del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5521_5528del	ENSP00000417241.2:p.Val1841LeufsTer?
ENST00000470026.6:c.5524_5531del	ENSP00000419274.2:p.Val1842LeufsTer?
ENST00000473961.6:c.5398_5405del	ENSP00000420201.2:p.Val1800LeufsTer?
ENST00000476777.6:c.5518_5525del	ENSP00000417554.2:p.Val1840LeufsTer?
ENST00000477152.6:c.5446_5453del	ENSP00000419988.2:p.Val1816LeufsTer?
ENST00000478531.6:c.2212_2219del	ENSP00000420412.2:p.Val738LeufsTer?
ENST00000489037.2:c.5446_5453del	ENSP00000420781.2:p.Val1816LeufsTer?
ENST00000493919.6:c.2074_2081del	ENSP00000418819.2:p.Val692LeufsTer?
ENST00000494123.6:c.5524_5531del	ENSP00000419103.2:p.Val1842LeufsTer?
ENST00000497488.2:c.4636_4643del	ENSP00000418986.2:p.Val1546LeufsTer?
ENST00000618469.2:c.5524_5531del	ENSP00000478114.2:p.Val1842LeufsTer?
ENST00000634433.2:c.5401_5408del	ENSP00000489431.2:p.Val1801LeufsTer?
ENST00000644379.2:c.5590_5597del	ENSP00000496570.2:p.Val1864LeufsTer?
ENST00000644555.2:c.2074_2081del	ENSP00000494614.2:p.Val692LeufsTer?
ENST00000652672.2:c.5383_5390del	ENSP00000498906.2:p.Val1795LeufsTer?
ENST00000484087.6:c.2086_2093del	ENSP00000419481.2:p.Val696LeufsTer?
ENST00000700081.1:n.1407_1414del
ENST00000700082.1:n.888_895del
ENST00000357654.9:c.5524_5531del MANE Select	ENSP00000350283.3:p.Val1842LeufsTer?
ENST00000471181.7:c.5587_5594del	ENSP00000418960.2:p.Val1863LeufsTer?
ENST00000644379.1:c.1911_1918del
ENST00000352993.7:c.2098_2105del	ENSP00000312236.5:p.Val700LeufsTer?
ENST00000357654.7:c.5524_5531del	ENSP00000350283.3:p.Val1842LeufsTer?
ENST00000461221.5:c.*5307_*5314del	ENSP00000418548.1:n.*5307_*5314del
ENST00000468300.5:c.*38_*45del	ENSP00000417148.1:n.*38_*45del
ENST00000471181.6:c.5587_5594del	ENSP00000418960.2:p.Val1863LeufsTer?
ENST00000491747.6:c.2212_2219del	ENSP00000420705.2:p.Val738LeufsTer?
ENST00000493795.5:c.5383_5390del	ENSP00000418775.1:p.Val1795LeufsTer?
ENST00000586385.5:c.454_461del	ENSP00000465818.1:p.Val152LeufsTer?
ENST00000591534.5:c.997_1004del	ENSP00000467329.1:p.Val333LeufsTer?
ENST00000591849.5:c.223_230del	ENSP00000465347.1:p.Val75LeufsTer?
NM_007294.3:c.5524_5531del , LRG_292t1:c.5524_5531del	NP_009225.1:p.Val1842LeufsTer?
NM_007297.3:c.5383_5390del	NP_009228.2:p.Val1795LeufsTer?
NM_007298.3:c.2212_2219del	NP_009229.2:p.Val738LeufsTer?
NM_007299.3:c.*38_*45del	NP_009230.2:n.*38_*45del
NM_007300.3:c.5587_5594del	NP_009231.2:p.Val1863LeufsTer?
NR_027676.1:n.5660_5667del
NM_007294.4:c.5524_5531del MANE Select	NP_009225.1:p.Val1842LeufsTer?
NM_007297.4:c.5383_5390del	NP_009228.2:p.Val1795LeufsTer?
NM_007299.4:c.*38_*45del	NP_009230.2:n.*38_*45del
NM_007300.4:c.5587_5594del	NP_009231.2:p.Val1863LeufsTer?
NR_027676.2:n.5701_5708del