Canonical Allele Identifier: CA2573153992

Gene: BRCA1

Linked Data

• ClinVar Variation Id: 1354632
• ClinVar RCV Id: RCV001887838
• dbSNP Id: rs2152543224

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43045755del , CM000679.2:g.43045755del	GRCh38
NC_000017.10:g.41197772del , CM000679.1:g.41197772del	GRCh37
NC_000017.9:g.38451298del	NCBI36
NG_005905.2:g.172230del , LRG_292:g.172230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000461574.2:c.5513del	ENSP00000417241.2:p.Leu1838TrpfsTer4
ENST00000470026.6:c.5516del	ENSP00000419274.2:p.Leu1839TrpfsTer4
ENST00000473961.6:c.5390del	ENSP00000420201.2:p.Leu1797TrpfsTer4
ENST00000476777.6:c.5510del	ENSP00000417554.2:p.Leu1837TrpfsTer4
ENST00000477152.6:c.5438del	ENSP00000419988.2:p.Leu1813TrpfsTer4
ENST00000478531.6:c.2204del	ENSP00000420412.2:p.Leu735TrpfsTer4
ENST00000489037.2:c.5438del	ENSP00000420781.2:p.Leu1813TrpfsTer4
ENST00000493919.6:c.2066del	ENSP00000418819.2:p.Leu689TrpfsTer4
ENST00000494123.6:c.5516del	ENSP00000419103.2:p.Leu1839TrpfsTer4
ENST00000497488.2:c.4628del	ENSP00000418986.2:p.Leu1543TrpfsTer4
ENST00000618469.2:c.5516del	ENSP00000478114.2:p.Leu1839TrpfsTer4
ENST00000634433.2:c.5393del	ENSP00000489431.2:p.Leu1798TrpfsTer4
ENST00000644379.2:c.5582del	ENSP00000496570.2:p.Leu1861TrpfsTer4
ENST00000644555.2:c.2066del	ENSP00000494614.2:p.Leu689TrpfsTer4
ENST00000652672.2:c.5375del	ENSP00000498906.2:p.Leu1792TrpfsTer4
ENST00000484087.6:c.2078del	ENSP00000419481.2:p.Leu693TrpfsTer4
ENST00000700081.1:n.1399del
ENST00000700082.1:n.880del
ENST00000357654.9:c.5516del MANE Select	ENSP00000350283.3:p.Leu1839TrpfsTer4
ENST00000471181.7:c.5579del	ENSP00000418960.2:p.Leu1860TrpfsTer4
ENST00000644379.1:c.1903del
ENST00000352993.7:c.2090del	ENSP00000312236.5:p.Leu697TrpfsTer4
ENST00000357654.7:c.5516del	ENSP00000350283.3:p.Leu1839TrpfsTer4
ENST00000461221.5:c.*5299del	ENSP00000418548.1:n.*5299del
ENST00000468300.5:c.*30del	ENSP00000417148.1:n.*30del
ENST00000471181.6:c.5579del	ENSP00000418960.2:p.Leu1860TrpfsTer4
ENST00000491747.6:c.2204del	ENSP00000420705.2:p.Leu735TrpfsTer4
ENST00000493795.5:c.5375del	ENSP00000418775.1:p.Leu1792TrpfsTer4
ENST00000586385.5:c.446del	ENSP00000465818.1:p.Leu149TrpfsTer4
ENST00000591534.5:c.989del	ENSP00000467329.1:p.Leu330TrpfsTer4
ENST00000591849.5:c.215del	ENSP00000465347.1:p.Leu72TrpfsTer4
NM_007294.3:c.5516del , LRG_292t1:c.5516del	NP_009225.1:p.Leu1839TrpfsTer4
NM_007297.3:c.5375del	NP_009228.2:p.Leu1792TrpfsTer4
NM_007298.3:c.2204del	NP_009229.2:p.Leu735TrpfsTer4
NM_007299.3:c.*30del	NP_009230.2:n.*30del
NM_007300.3:c.5579del	NP_009231.2:p.Leu1860TrpfsTer4
NR_027676.1:n.5652del
NM_007294.4:c.5516del MANE Select	NP_009225.1:p.Leu1839TrpfsTer4
NM_007297.4:c.5375del	NP_009228.2:p.Leu1792TrpfsTer4
NM_007299.4:c.*30del	NP_009230.2:n.*30del
NM_007300.4:c.5579del	NP_009231.2:p.Leu1860TrpfsTer4
NR_027676.2:n.5693del