Canonical Allele Identifier: CA002859

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 55204
• ClinVar RCV Id: RCV000256861 ; RCV000496726
• dbSNP Id: rs397509179
• MyVariant Identifiers: chr17:g.41228533del (hg19) ; chr17:g.43076516del (hg38)
• PubMed: PMID:15340362

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43076516del , CM000679.2:g.43076516del	GRCh38
NC_000017.10:g.41228533del , CM000679.1:g.41228533del	GRCh37
NC_000017.9:g.38482059del	NCBI36
NG_005905.2:g.141468del , LRG_292:g.141468del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.4453del	ENSP00000417241.2:p.Ser1485ValfsTer19
ENST00000470026.6:c.4456del	ENSP00000419274.2:p.Ser1486ValfsTer19
ENST00000473961.6:c.4330del	ENSP00000420201.2:p.Ser1444ValfsTer19
ENST00000476777.6:c.4450del	ENSP00000417554.2:p.Ser1484ValfsTer19
ENST00000477152.6:c.4378del	ENSP00000419988.2:p.Ser1460ValfsTer19
ENST00000478531.6:c.1144del	ENSP00000420412.2:p.Ser382ValfsTer19
ENST00000489037.2:c.4378del	ENSP00000420781.2:p.Ser1460ValfsTer19
ENST00000493919.6:c.1006del	ENSP00000418819.2:p.Ser336ValfsTer19
ENST00000494123.6:c.4456del	ENSP00000419103.2:p.Ser1486ValfsTer19
ENST00000497488.2:c.3568del	ENSP00000418986.2:p.Ser1190ValfsTer19
ENST00000618469.2:c.4456del	ENSP00000478114.2:p.Ser1486ValfsTer19
ENST00000634433.2:c.4333del	ENSP00000489431.2:p.Ser1445ValfsTer19
ENST00000644379.2:c.4522del	ENSP00000496570.2:p.Ser1508ValfsTer19
ENST00000644555.2:c.1006del	ENSP00000494614.2:p.Ser336ValfsTer19
ENST00000652672.2:c.4315del	ENSP00000498906.2:p.Ser1439ValfsTer19
ENST00000484087.6:c.1018del	ENSP00000419481.2:p.Ser340ValfsTer19
ENST00000700182.1:c.1063del	ENSP00000514849.1:p.Ser355ValfsTer19
ENST00000357654.9:c.4456del MANE Select	ENSP00000350283.3:p.Ser1486ValfsTer19
ENST00000471181.7:c.4519del	ENSP00000418960.2:p.Ser1507ValfsTer19
ENST00000644379.1:c.843del
ENST00000352993.7:c.1030del	ENSP00000312236.5:p.Ser344ValfsTer19
ENST00000357654.7:c.4456del	ENSP00000350283.3:p.Ser1486ValfsTer19
ENST00000461221.5:c.*4239del	ENSP00000418548.1:n.*4239del
ENST00000468300.5:c.1144del	ENSP00000417148.1:p.Ser382ValfsTer19
ENST00000471181.6:c.4519del	ENSP00000418960.2:p.Ser1507ValfsTer19
ENST00000478531.5:c.1144del	ENSP00000420412.1:p.Ser382ValfsTer19
ENST00000484087.5:c.769del	ENSP00000419481.1:p.Ser257ValfsTer19
ENST00000487825.5:c.772del	ENSP00000418212.1:p.Ser258ValfsTer?
ENST00000491747.6:c.1144del	ENSP00000420705.2:p.Ser382ValfsTer19
ENST00000493795.5:c.4315del	ENSP00000418775.1:p.Ser1439ValfsTer19
ENST00000493919.5:c.1006del	ENSP00000418819.1:p.Ser336ValfsTer19
ENST00000586385.5:c.5-12565del	ENSP00000465818.1:n.5-12565del
ENST00000591534.5:c.-43-1995del	ENSP00000467329.1:n.-43-1995del
ENST00000591849.5:c.-98-26326del	ENSP00000465347.1:n.-98-26326del
ENST00000621897.1:n.347del
NM_007294.3:c.4456del , LRG_292t1:c.4456del	NP_009225.1:p.Ser1486ValfsTer19
NM_007297.3:c.4315del	NP_009228.2:p.Ser1439ValfsTer19
NM_007298.3:c.1144del	NP_009229.2:p.Ser382ValfsTer19
NM_007299.3:c.1144del	NP_009230.2:p.Ser382ValfsTer19
NM_007300.3:c.4519del	NP_009231.2:p.Ser1507ValfsTer19
NR_027676.1:n.4592del
NM_007294.4:c.4456del MANE Select	NP_009225.1:p.Ser1486ValfsTer19
NM_007297.4:c.4315del	NP_009228.2:p.Ser1439ValfsTer19
NM_007299.4:c.1144del	NP_009230.2:p.Ser382ValfsTer19
NM_007300.4:c.4519del	NP_009231.2:p.Ser1507ValfsTer19
NR_027676.2:n.4633del