Canonical Allele Identifier: CA003275

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55422
• ClinVar RCV Id: RCV001389635
• dbSNP Id: rs80357720
• MyVariant Identifiers: chr17:g.41215893del (hg19) ; chr17:g.43063876del (hg38)
• PubMed: PMID:16267036

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43063878del , CM000679.2:g.43063878del	GRCh38
NC_000017.10:g.41215895del , CM000679.1:g.41215895del	GRCh37
NC_000017.9:g.38469421del	NCBI36
NG_005905.2:g.154108del , LRG_292:g.154108del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5147del	ENSP00000417241.2:p.Phe1716SerfsTer3
ENST00000470026.6:c.5150del	ENSP00000419274.2:p.Phe1717SerfsTer3
ENST00000473961.6:c.5024del	ENSP00000420201.2:p.Phe1675SerfsTer3
ENST00000476777.6:c.5144del	ENSP00000417554.2:p.Phe1715SerfsTer3
ENST00000477152.6:c.5072del	ENSP00000419988.2:p.Phe1691SerfsTer3
ENST00000478531.6:c.1838del	ENSP00000420412.2:p.Phe613SerfsTer3
ENST00000489037.2:c.5072del	ENSP00000420781.2:p.Phe1691SerfsTer3
ENST00000493919.6:c.1700del	ENSP00000418819.2:p.Phe567SerfsTer3
ENST00000494123.6:c.5150del	ENSP00000419103.2:p.Phe1717SerfsTer3
ENST00000497488.2:c.4262del	ENSP00000418986.2:p.Phe1421SerfsTer3
ENST00000618469.2:c.5150del	ENSP00000478114.2:p.Phe1717SerfsTer3
ENST00000634433.2:c.5027del	ENSP00000489431.2:p.Phe1676SerfsTer3
ENST00000644379.2:c.5216del	ENSP00000496570.2:p.Phe1739SerfsTer3
ENST00000644555.2:c.1700del	ENSP00000494614.2:p.Phe567SerfsTer3
ENST00000652672.2:c.5009del	ENSP00000498906.2:p.Phe1670SerfsTer3
ENST00000484087.6:c.1712del	ENSP00000419481.2:p.Phe571SerfsTer3
ENST00000357654.9:c.5150del MANE Select	ENSP00000350283.3:p.Phe1717SerfsTer3
ENST00000471181.7:c.5213del	ENSP00000418960.2:p.Phe1738SerfsTer3
ENST00000644379.1:c.1537del
ENST00000352993.7:c.1724del	ENSP00000312236.5:p.Phe575SerfsTer3
ENST00000357654.7:c.5150del	ENSP00000350283.3:p.Phe1717SerfsTer3
ENST00000461221.5:c.*4933del	ENSP00000418548.1:n.*4933del
ENST00000468300.5:c.1838del	ENSP00000417148.1:p.Phe613SerfsTer3
ENST00000471181.6:c.5213del	ENSP00000418960.2:p.Phe1738SerfsTer3
ENST00000478531.5:c.1838del	ENSP00000420412.1:p.Phe613SerfsTer3
ENST00000484087.5:c.1463del	ENSP00000419481.1:p.Phe488SerfsTer3
ENST00000491747.6:c.1838del	ENSP00000420705.2:p.Phe613SerfsTer3
ENST00000493795.5:c.5009del	ENSP00000418775.1:p.Phe1670SerfsTer3
ENST00000493919.5:c.1700del	ENSP00000418819.1:p.Phe567SerfsTer3
ENST00000586385.5:c.80del	ENSP00000465818.1:p.Phe27SerfsTer3
ENST00000591534.5:c.623del	ENSP00000467329.1:p.Phe208SerfsTer3
ENST00000591849.5:c.-98-13686del	ENSP00000465347.1:n.-98-13686del
NM_007294.3:c.5150del , LRG_292t1:c.5150del	NP_009225.1:p.Phe1717SerfsTer3
NM_007297.3:c.5009del	NP_009228.2:p.Phe1670SerfsTer3
NM_007298.3:c.1838del	NP_009229.2:p.Phe613SerfsTer3
NM_007299.3:c.1838del	NP_009230.2:p.Phe613SerfsTer3
NM_007300.3:c.5213del	NP_009231.2:p.Phe1738SerfsTer3
NR_027676.1:n.5286del
NM_007294.4:c.5150del MANE Select	NP_009225.1:p.Phe1717SerfsTer3
NM_007297.4:c.5009del	NP_009228.2:p.Phe1670SerfsTer3
NM_007299.4:c.1838del	NP_009230.2:p.Phe613SerfsTer3
NM_007300.4:c.5213del	NP_009231.2:p.Phe1738SerfsTer3
NR_027676.2:n.5327del