Canonical Allele Identifier: CA003668
Gene: BRCA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 125867
ClinVar RCV Id: RCV000112682
dbSNP Id: rs80359873

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43045763_43045776del , CM000679.2:g.43045763_43045776del GRCh38
NC_000017.10:g.41197780_41197793del , CM000679.1:g.41197780_41197793del GRCh37
NC_000017.9:g.38451306_38451319del NCBI36
NG_005905.2:g.172212_172225del , LRG_292:g.172212_172225del

Transcript Alleles

HGVS Amino-acid change
ENST00000461574.2:c.5495_5508del ENSP00000417241.2:p.Val1832GlyfsTer?
ENST00000470026.6:c.5498_5511del ENSP00000419274.2:p.Val1833GlyfsTer?
ENST00000473961.6:c.5372_5385del ENSP00000420201.2:p.Val1791GlyfsTer?
ENST00000476777.6:c.5492_5505del ENSP00000417554.2:p.Val1831GlyfsTer?
ENST00000477152.6:c.5420_5433del ENSP00000419988.2:p.Val1807GlyfsTer?
ENST00000478531.6:c.2186_2199del ENSP00000420412.2:p.Val729GlyfsTer?
ENST00000489037.2:c.5420_5433del ENSP00000420781.2:p.Val1807GlyfsTer?
ENST00000493919.6:c.2048_2061del ENSP00000418819.2:p.Val683GlyfsTer?
ENST00000494123.6:c.5498_5511del ENSP00000419103.2:p.Val1833GlyfsTer?
ENST00000497488.2:c.4610_4623del ENSP00000418986.2:p.Val1537GlyfsTer?
ENST00000618469.2:c.5498_5511del ENSP00000478114.2:p.Val1833GlyfsTer?
ENST00000634433.2:c.5375_5388del ENSP00000489431.2:p.Val1792GlyfsTer?
ENST00000644379.2:c.5564_5577del ENSP00000496570.2:p.Val1855GlyfsTer?
ENST00000644555.2:c.2048_2061del ENSP00000494614.2:p.Val683GlyfsTer?
ENST00000652672.2:c.5357_5370del ENSP00000498906.2:p.Val1786GlyfsTer?
ENST00000484087.6:c.2060_2073del ENSP00000419481.2:p.Val687GlyfsTer?
ENST00000700081.1:n.1381_1394del
ENST00000700082.1:n.862_875del
ENST00000357654.9:c.5498_5511del MANE Select ENSP00000350283.3:p.Val1833GlyfsTer?
ENST00000471181.7:c.5561_5574del ENSP00000418960.2:p.Val1854GlyfsTer?
ENST00000644379.1:c.1885_1898del
ENST00000352993.7:c.2072_2085del ENSP00000312236.5:p.Val691GlyfsTer?
ENST00000357654.7:c.5498_5511del ENSP00000350283.3:p.Val1833GlyfsTer?
ENST00000461221.5:c.*5281_*5294del ENSP00000418548.1:n.*5281_*5294del
ENST00000468300.5:c.*12_*25del ENSP00000417148.1:n.*12_*25del
ENST00000471181.6:c.5561_5574del ENSP00000418960.2:p.Val1854GlyfsTer?
ENST00000491747.6:c.2186_2199del ENSP00000420705.2:p.Val729GlyfsTer?
ENST00000493795.5:c.5357_5370del ENSP00000418775.1:p.Val1786GlyfsTer?
ENST00000586385.5:c.428_441del ENSP00000465818.1:p.Val143GlyfsTer?
ENST00000591534.5:c.971_984del ENSP00000467329.1:p.Val324GlyfsTer?
ENST00000591849.5:c.197_210del ENSP00000465347.1:p.Val66GlyfsTer?
NM_007294.3:c.5498_5511del , LRG_292t1:c.5498_5511del NP_009225.1:p.Val1833GlyfsTer?
NM_007297.3:c.5357_5370del NP_009228.2:p.Val1786GlyfsTer?
NM_007298.3:c.2186_2199del NP_009229.2:p.Val729GlyfsTer?
NM_007299.3:c.*12_*25del NP_009230.2:n.*12_*25del
NM_007300.3:c.5561_5574del NP_009231.2:p.Val1854GlyfsTer?
NR_027676.1:n.5634_5647del
NM_007294.4:c.5498_5511del MANE Select NP_009225.1:p.Val1833GlyfsTer?
NM_007297.4:c.5357_5370del NP_009228.2:p.Val1786GlyfsTer?
NM_007299.4:c.*12_*25del NP_009230.2:n.*12_*25del
NM_007300.4:c.5561_5574del NP_009231.2:p.Val1854GlyfsTer?
NR_027676.2:n.5675_5688del