Canonical Allele Identifier: CA2697559965

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 2692264
• ClinVar RCV Id: RCV003494461

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43047645del , CM000679.2:g.43047645del	GRCh38
NC_000017.10:g.41199662del , CM000679.1:g.41199662del	GRCh37
NC_000017.9:g.38453188del	NCBI36
NG_005905.2:g.170339del , LRG_292:g.170339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5462del	ENSP00000417241.2:p.His1821LeufsTer12
ENST00000470026.6:c.5465del	ENSP00000419274.2:p.His1822LeufsTer12
ENST00000473961.6:c.5339del	ENSP00000420201.2:p.His1780LeufsTer12
ENST00000476777.6:c.5459del	ENSP00000417554.2:p.His1820LeufsTer12
ENST00000477152.6:c.5387del	ENSP00000419988.2:p.His1796LeufsTer12
ENST00000478531.6:c.2153del	ENSP00000420412.2:p.His718LeufsTer12
ENST00000489037.2:c.5387del	ENSP00000420781.2:p.His1796LeufsTer12
ENST00000493919.6:c.2015del	ENSP00000418819.2:p.His672LeufsTer12
ENST00000494123.6:c.5465del	ENSP00000419103.2:p.His1822LeufsTer12
ENST00000497488.2:c.4577del	ENSP00000418986.2:p.His1526LeufsTer12
ENST00000618469.2:c.5465del	ENSP00000478114.2:p.His1822LeufsTer12
ENST00000634433.2:c.5342del	ENSP00000489431.2:p.His1781LeufsTer12
ENST00000644379.2:c.5531del	ENSP00000496570.2:p.His1844LeufsTer12
ENST00000644555.2:c.2015del	ENSP00000494614.2:p.His672LeufsTer12
ENST00000652672.2:c.5324del	ENSP00000498906.2:p.His1775LeufsTer12
ENST00000484087.6:c.2027del	ENSP00000419481.2:p.His676LeufsTer12
ENST00000700081.1:n.1348del
ENST00000700082.1:n.829del
ENST00000357654.9:c.5465del MANE Select	ENSP00000350283.3:p.His1822LeufsTer12
ENST00000471181.7:c.5528del	ENSP00000418960.2:p.His1843LeufsTer12
ENST00000644379.1:c.1852del
ENST00000352993.7:c.2039del	ENSP00000312236.5:p.His680LeufsTer12
ENST00000357654.7:c.5465del	ENSP00000350283.3:p.His1822LeufsTer12
ENST00000461221.5:c.*5248del	ENSP00000418548.1:n.*5248del
ENST00000468300.5:c.2079del	ENSP00000417148.1:p.Cys694AlafsTer?
ENST00000471181.6:c.5528del	ENSP00000418960.2:p.His1843LeufsTer12
ENST00000491747.6:c.2153del	ENSP00000420705.2:p.His718LeufsTer12
ENST00000493795.5:c.5324del	ENSP00000418775.1:p.His1775LeufsTer12
ENST00000586385.5:c.395del	ENSP00000465818.1:p.His132LeufsTer12
ENST00000591534.5:c.938del	ENSP00000467329.1:p.His313LeufsTer12
ENST00000591849.5:c.164del	ENSP00000465347.1:p.His55LeufsTer12
NM_007294.3:c.5465del , LRG_292t1:c.5465del	NP_009225.1:p.His1822LeufsTer12
NM_007297.3:c.5324del	NP_009228.2:p.His1775LeufsTer12
NM_007298.3:c.2153del	NP_009229.2:p.His718LeufsTer12
NM_007299.3:c.2079del	NP_009230.2:p.Cys694AlafsTer?
NM_007300.3:c.5528del	NP_009231.2:p.His1843LeufsTer12
NR_027676.1:n.5601del
NM_007294.4:c.5465del MANE Select	NP_009225.1:p.His1822LeufsTer12
NM_007297.4:c.5324del	NP_009228.2:p.His1775LeufsTer12
NM_007299.4:c.2079del	NP_009230.2:p.Cys694AlafsTer?
NM_007300.4:c.5528del	NP_009231.2:p.His1843LeufsTer12
NR_027676.2:n.5642del