Canonical Allele Identifier: CA003329

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 91640
• ClinVar RCV Id: RCV000077157 ; RCV000794193
• dbSNP Id: rs398122692
• MyVariant Identifiers: chr17:g.41215357del (hg19) ; chr17:g.43063340del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063340del , CM000679.2:g.43063340del	GRCh38
NC_000017.10:g.41215357del , CM000679.1:g.41215357del	GRCh37
NC_000017.9:g.38468883del	NCBI36
NG_005905.2:g.154644del , LRG_292:g.154644del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5183del	ENSP00000417241.2:p.Leu1728ArgfsTer?
ENST00000470026.6:c.5186del	ENSP00000419274.2:p.Leu1729ArgfsTer?
ENST00000473961.6:c.5060del	ENSP00000420201.2:p.Leu1687ArgfsTer?
ENST00000476777.6:c.5180del	ENSP00000417554.2:p.Leu1727ArgfsTer?
ENST00000477152.6:c.5108del	ENSP00000419988.2:p.Leu1703ArgfsTer?
ENST00000478531.6:c.1874del	ENSP00000420412.2:p.Leu625ArgfsTer?
ENST00000489037.2:c.5108del	ENSP00000420781.2:p.Leu1703ArgfsTer?
ENST00000493919.6:c.1736del	ENSP00000418819.2:p.Leu579ArgfsTer?
ENST00000494123.6:c.5186del	ENSP00000419103.2:p.Leu1729ArgfsTer?
ENST00000497488.2:c.4298del	ENSP00000418986.2:p.Leu1433ArgfsTer?
ENST00000618469.2:c.5186del	ENSP00000478114.2:p.Leu1729ArgfsTer?
ENST00000634433.2:c.5063del	ENSP00000489431.2:p.Leu1688ArgfsTer?
ENST00000644379.2:c.5252del	ENSP00000496570.2:p.Leu1751ArgfsTer?
ENST00000644555.2:c.1736del	ENSP00000494614.2:p.Leu579ArgfsTer?
ENST00000652672.2:c.5045del	ENSP00000498906.2:p.Leu1682ArgfsTer?
ENST00000484087.6:c.1748del	ENSP00000419481.2:p.Leu583ArgfsTer?
ENST00000357654.9:c.5186del MANE Select	ENSP00000350283.3:p.Leu1729ArgfsTer?
ENST00000471181.7:c.5249del	ENSP00000418960.2:p.Leu1750ArgfsTer?
ENST00000644379.1:c.1573del
ENST00000352993.7:c.1760del	ENSP00000312236.5:p.Leu587ArgfsTer?
ENST00000357654.7:c.5186del	ENSP00000350283.3:p.Leu1729ArgfsTer?
ENST00000461221.5:c.*4969del	ENSP00000418548.1:n.*4969del
ENST00000468300.5:c.1874del	ENSP00000417148.1:p.Leu625ArgfsTer?
ENST00000471181.6:c.5249del	ENSP00000418960.2:p.Leu1750ArgfsTer?
ENST00000491747.6:c.1874del	ENSP00000420705.2:p.Leu625ArgfsTer?
ENST00000493795.5:c.5045del	ENSP00000418775.1:p.Leu1682ArgfsTer?
ENST00000586385.5:c.116del	ENSP00000465818.1:p.Leu39ArgfsTer?
ENST00000591534.5:c.659del	ENSP00000467329.1:p.Leu220ArgfsTer?
ENST00000591849.5:c.-98-13150del	ENSP00000465347.1:n.-98-13150del
NM_007294.3:c.5186del , LRG_292t1:c.5186del	NP_009225.1:p.Leu1729ArgfsTer?
NM_007297.3:c.5045del	NP_009228.2:p.Leu1682ArgfsTer?
NM_007298.3:c.1874del	NP_009229.2:p.Leu625ArgfsTer?
NM_007299.3:c.1874del	NP_009230.2:p.Leu625ArgfsTer?
NM_007300.3:c.5249del	NP_009231.2:p.Leu1750ArgfsTer?
NR_027676.1:n.5322del
NM_007294.4:c.5186del MANE Select	NP_009225.1:p.Leu1729ArgfsTer?
NM_007297.4:c.5045del	NP_009228.2:p.Leu1682ArgfsTer?
NM_007299.4:c.1874del	NP_009230.2:p.Leu625ArgfsTer?
NM_007300.4:c.5249del	NP_009231.2:p.Leu1750ArgfsTer?
NR_027676.2:n.5363del