Canonical Allele Identifier: CA003316

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55440
• ClinVar RCV Id: RCV000257136 ; RCV001390968
• dbSNP Id: rs397509233
• MyVariant Identifiers: chr17:g.41215381del (hg19) ; chr17:g.43063364del (hg38)
• PubMed: PMID:21318380

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063364del , CM000679.2:g.43063364del	GRCh38
NC_000017.10:g.41215381del , CM000679.1:g.41215381del	GRCh37
NC_000017.9:g.38468907del	NCBI36
NG_005905.2:g.154620del , LRG_292:g.154620del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5159del	ENSP00000417241.2:p.Gln1720ArgfsTer9
ENST00000470026.6:c.5162del	ENSP00000419274.2:p.Gln1721ArgfsTer9
ENST00000473961.6:c.5036del	ENSP00000420201.2:p.Gln1679ArgfsTer9
ENST00000476777.6:c.5156del	ENSP00000417554.2:p.Gln1719ArgfsTer9
ENST00000477152.6:c.5084del	ENSP00000419988.2:p.Gln1695ArgfsTer9
ENST00000478531.6:c.1850del	ENSP00000420412.2:p.Gln617ArgfsTer9
ENST00000489037.2:c.5084del	ENSP00000420781.2:p.Gln1695ArgfsTer9
ENST00000493919.6:c.1712del	ENSP00000418819.2:p.Gln571ArgfsTer9
ENST00000494123.6:c.5162del	ENSP00000419103.2:p.Gln1721ArgfsTer9
ENST00000497488.2:c.4274del	ENSP00000418986.2:p.Gln1425ArgfsTer9
ENST00000618469.2:c.5162del	ENSP00000478114.2:p.Gln1721ArgfsTer9
ENST00000634433.2:c.5039del	ENSP00000489431.2:p.Gln1680ArgfsTer9
ENST00000644379.2:c.5228del	ENSP00000496570.2:p.Gln1743ArgfsTer9
ENST00000644555.2:c.1712del	ENSP00000494614.2:p.Gln571ArgfsTer9
ENST00000652672.2:c.5021del	ENSP00000498906.2:p.Gln1674ArgfsTer9
ENST00000484087.6:c.1724del	ENSP00000419481.2:p.Gln575ArgfsTer9
ENST00000357654.9:c.5162del MANE Select	ENSP00000350283.3:p.Gln1721ArgfsTer9
ENST00000471181.7:c.5225del	ENSP00000418960.2:p.Gln1742ArgfsTer9
ENST00000644379.1:c.1549del
ENST00000352993.7:c.1736del	ENSP00000312236.5:p.Gln579ArgfsTer9
ENST00000357654.7:c.5162del	ENSP00000350283.3:p.Gln1721ArgfsTer9
ENST00000461221.5:c.*4945del	ENSP00000418548.1:n.*4945del
ENST00000468300.5:c.1850del	ENSP00000417148.1:p.Gln617ArgfsTer9
ENST00000471181.6:c.5225del	ENSP00000418960.2:p.Gln1742ArgfsTer9
ENST00000478531.5:c.1850del	ENSP00000420412.1:p.Gln617ArgfsTer?
ENST00000484087.5:c.1475del	ENSP00000419481.1:p.Gln492ArgfsTer?
ENST00000491747.6:c.1850del	ENSP00000420705.2:p.Gln617ArgfsTer9
ENST00000493795.5:c.5021del	ENSP00000418775.1:p.Gln1674ArgfsTer9
ENST00000493919.5:c.1712del	ENSP00000418819.1:p.Gln571ArgfsTer?
ENST00000586385.5:c.92del	ENSP00000465818.1:p.Gln31ArgfsTer9
ENST00000591534.5:c.635del	ENSP00000467329.1:p.Gln212ArgfsTer9
ENST00000591849.5:c.-98-13174del	ENSP00000465347.1:n.-98-13174del
NM_007294.3:c.5162del , LRG_292t1:c.5162del	NP_009225.1:p.Gln1721ArgfsTer9
NM_007297.3:c.5021del	NP_009228.2:p.Gln1674ArgfsTer9
NM_007298.3:c.1850del	NP_009229.2:p.Gln617ArgfsTer9
NM_007299.3:c.1850del	NP_009230.2:p.Gln617ArgfsTer9
NM_007300.3:c.5225del	NP_009231.2:p.Gln1742ArgfsTer9
NR_027676.1:n.5298del
NM_007294.4:c.5162del MANE Select	NP_009225.1:p.Gln1721ArgfsTer9
NM_007297.4:c.5021del	NP_009228.2:p.Gln1674ArgfsTer9
NM_007299.4:c.1850del	NP_009230.2:p.Gln617ArgfsTer9
NM_007300.4:c.5225del	NP_009231.2:p.Gln1742ArgfsTer9
NR_027676.2:n.5339del