Canonical Allele Identifier: CA000917

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 54225
• ClinVar RCV Id: RCV000576947 ; RCV000661350
• dbSNP Id: rs397508863
• MyVariant Identifiers: chr17:g.41246168del (hg19) ; chr17:g.43094151del (hg38)
• PubMed: PMID:8808710

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43094151del , CM000679.2:g.43094151del	GRCh38
NC_000017.10:g.41246168del , CM000679.1:g.41246168del	GRCh37
NC_000017.9:g.38499694del	NCBI36
NG_005905.2:g.123833del , LRG_292:g.123833del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354071.8:n.1444del
ENST00000461574.2:c.1380del	ENSP00000417241.2:p.Phe461LeufsTer14
ENST00000470026.6:c.1380del	ENSP00000419274.2:p.Phe461LeufsTer14
ENST00000473961.6:c.1254del	ENSP00000420201.2:p.Phe419LeufsTer14
ENST00000476777.6:c.1377del	ENSP00000417554.2:p.Phe460LeufsTer14
ENST00000477152.6:c.1302del	ENSP00000419988.2:p.Phe435LeufsTer14
ENST00000478531.6:c.784+593del	ENSP00000420412.2:n.784+593del
ENST00000489037.2:c.1302del	ENSP00000420781.2:p.Phe435LeufsTer14
ENST00000493919.6:c.646+593del	ENSP00000418819.2:n.646+593del
ENST00000494123.6:c.1380del	ENSP00000419103.2:p.Phe461LeufsTer14
ENST00000497488.2:c.492del	ENSP00000418986.2:p.Phe165LeufsTer14
ENST00000618469.2:c.1380del	ENSP00000478114.2:p.Phe461LeufsTer14
ENST00000634433.2:c.1257del	ENSP00000489431.2:p.Phe420LeufsTer14
ENST00000644379.2:c.1380del	ENSP00000496570.2:p.Phe461LeufsTer14
ENST00000644555.2:c.646+593del	ENSP00000494614.2:n.646+593del
ENST00000652672.2:c.1239del	ENSP00000498906.2:p.Phe414LeufsTer14
ENST00000484087.6:c.664+593del	ENSP00000419481.2:n.664+593del
ENST00000700182.1:c.706+593del	ENSP00000514849.1:n.706+593del
ENST00000700183.1:c.*1388del	ENSP00000514850.1:n.*1388del
ENST00000357654.9:c.1380del MANE Select	ENSP00000350283.3:p.Phe461LeufsTer14
ENST00000471181.7:c.1380del	ENSP00000418960.2:p.Phe461LeufsTer14
ENST00000652672.1:c.1239del	ENSP00000498906.1:p.Phe414LeufsTer14
ENST00000352993.7:c.670+1695del	ENSP00000312236.5:n.670+1695del
ENST00000354071.7:c.1380del	ENSP00000326002.7:p.Phe461LeufsTer14
ENST00000357654.7:c.1380del	ENSP00000350283.3:p.Phe461LeufsTer14
ENST00000412061.3:c.731del
ENST00000461221.5:c.*1163del	ENSP00000418548.1:n.*1163del
ENST00000468300.5:c.787+593del	ENSP00000417148.1:n.787+593del
ENST00000470026.5:c.1380del	ENSP00000419274.1:p.Phe461LeufsTer14
ENST00000471181.6:c.1380del	ENSP00000418960.2:p.Phe461LeufsTer14
ENST00000477152.5:c.1302del	ENSP00000419988.1:p.Phe435LeufsTer14
ENST00000478531.5:c.784+593del	ENSP00000420412.1:n.784+593del
ENST00000484087.5:c.409+593del	ENSP00000419481.1:n.409+593del
ENST00000487825.5:c.412+593del	ENSP00000418212.1:n.412+593del
ENST00000491747.6:c.787+593del	ENSP00000420705.2:n.787+593del
ENST00000492859.5:c.*1316del	ENSP00000420253.1:n.*1316del
ENST00000493795.5:c.1239del	ENSP00000418775.1:p.Phe414LeufsTer14
ENST00000493919.5:c.646+593del	ENSP00000418819.1:n.646+593del
ENST00000494123.5:c.1380del	ENSP00000419103.1:p.Phe461LeufsTer?
ENST00000497488.1:c.492del	ENSP00000418986.1:p.Phe165LeufsTer?
ENST00000586385.5:c.5-30200del	ENSP00000465818.1:n.5-30200del
ENST00000591534.5:c.-43-19630del	ENSP00000467329.1:n.-43-19630del
ENST00000591849.5:c.-99+31120del	ENSP00000465347.1:n.-99+31120del
ENST00000634433.1:c.1257del	ENSP00000489431.1:p.Phe420LeufsTer14
NM_007294.3:c.1380del , LRG_292t1:c.1380del	NP_009225.1:p.Phe461LeufsTer14
NM_007297.3:c.1239del	NP_009228.2:p.Phe414LeufsTer14
NM_007298.3:c.787+593del	NP_009229.2:n.787+593del
NM_007299.3:c.787+593del	NP_009230.2:n.787+593del
NM_007300.3:c.1380del	NP_009231.2:p.Phe461LeufsTer14
NR_027676.1:n.1516del
NM_007294.4:c.1380del MANE Select	NP_009225.1:p.Phe461LeufsTer14
NM_007297.4:c.1239del	NP_009228.2:p.Phe414LeufsTer14
NM_007299.4:c.787+593del	NP_009230.2:n.787+593del
NM_007300.4:c.1380del	NP_009231.2:p.Phe461LeufsTer14
NR_027676.2:n.1557del