Canonical Allele Identifier: CA658656683

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 482909
• ClinVar RCV Id: RCV000569881 ; RCV000792619
• dbSNP Id: rs1555579633
• MyVariant Identifiers: chr17:g.41219640del (hg19) ; chr17:g.43067623del (hg38)
• PubMed: PMID:26187060

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43067623del , CM000679.2:g.43067623del	GRCh38
NC_000017.10:g.41219640del , CM000679.1:g.41219640del	GRCh37
NC_000017.9:g.38473166del	NCBI36
NG_005905.2:g.150361del , LRG_292:g.150361del

Transcript Alleles

HGVS	Amino-acid change
ENST00000461574.2:c.5056del	ENSP00000417241.2:p.Val1686LeufsTer3
ENST00000470026.6:c.5059del	ENSP00000419274.2:p.Val1687LeufsTer3
ENST00000473961.6:c.4933del	ENSP00000420201.2:p.Val1645LeufsTer3
ENST00000476777.6:c.5053del	ENSP00000417554.2:p.Val1685LeufsTer3
ENST00000477152.6:c.4981del	ENSP00000419988.2:p.Val1661LeufsTer3
ENST00000478531.6:c.1747del	ENSP00000420412.2:p.Val583LeufsTer3
ENST00000489037.2:c.4981del	ENSP00000420781.2:p.Val1661LeufsTer3
ENST00000493919.6:c.1609del	ENSP00000418819.2:p.Val537LeufsTer3
ENST00000494123.6:c.5059del	ENSP00000419103.2:p.Val1687LeufsTer3
ENST00000497488.2:c.4171del	ENSP00000418986.2:p.Val1391LeufsTer3
ENST00000618469.2:c.5059del	ENSP00000478114.2:p.Val1687LeufsTer3
ENST00000634433.2:c.4936del	ENSP00000489431.2:p.Val1646LeufsTer3
ENST00000644379.2:c.5125del	ENSP00000496570.2:p.Val1709LeufsTer3
ENST00000644555.2:c.1609del	ENSP00000494614.2:p.Val537LeufsTer3
ENST00000652672.2:c.4918del	ENSP00000498906.2:p.Val1640LeufsTer3
ENST00000484087.6:c.1621del	ENSP00000419481.2:p.Val541LeufsTer3
ENST00000357654.9:c.5059del MANE Select	ENSP00000350283.3:p.Val1687LeufsTer3
ENST00000471181.7:c.5122del	ENSP00000418960.2:p.Val1708LeufsTer3
ENST00000644379.1:c.1446del
ENST00000352993.7:c.1633del	ENSP00000312236.5:p.Val545LeufsTer3
ENST00000357654.7:c.5059del	ENSP00000350283.3:p.Val1687LeufsTer3
ENST00000461221.5:c.*4842del	ENSP00000418548.1:n.*4842del
ENST00000468300.5:c.1747del	ENSP00000417148.1:p.Val583LeufsTer3
ENST00000471181.6:c.5122del	ENSP00000418960.2:p.Val1708LeufsTer3
ENST00000472490.1:n.212del
ENST00000478531.5:c.1747del	ENSP00000420412.1:p.Val583LeufsTer3
ENST00000484087.5:c.1372del	ENSP00000419481.1:p.Val458LeufsTer3
ENST00000491747.6:c.1747del	ENSP00000420705.2:p.Val583LeufsTer3
ENST00000493795.5:c.4918del	ENSP00000418775.1:p.Val1640LeufsTer3
ENST00000493919.5:c.1609del	ENSP00000418819.1:p.Val537LeufsTer3
ENST00000586385.5:c.5-3672del	ENSP00000465818.1:n.5-3672del
ENST00000591534.5:c.532del	ENSP00000467329.1:p.Val178LeufsTer3
ENST00000591849.5:c.-98-17433del	ENSP00000465347.1:n.-98-17433del
NM_007294.3:c.5059del , LRG_292t1:c.5059del	NP_009225.1:p.Val1687LeufsTer3
NM_007297.3:c.4918del	NP_009228.2:p.Val1640LeufsTer3
NM_007298.3:c.1747del	NP_009229.2:p.Val583LeufsTer3
NM_007299.3:c.1747del	NP_009230.2:p.Val583LeufsTer3
NM_007300.3:c.5122del	NP_009231.2:p.Val1708LeufsTer3
NR_027676.1:n.5195del
NM_007294.4:c.5059del MANE Select	NP_009225.1:p.Val1687LeufsTer3
NM_007297.4:c.4918del	NP_009228.2:p.Val1640LeufsTer3
NM_007299.4:c.1747del	NP_009230.2:p.Val583LeufsTer3
NM_007300.4:c.5122del	NP_009231.2:p.Val1708LeufsTer3
NR_027676.2:n.5236del