Canonical Allele Identifier: CA003374
Community Standard Title: NM_007294.4(BRCA1):c.5230del (p.Arg1744GlufsTer21)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43057100del , CM000679.2:g.43057100del GRCh38
NC_000017.10:g.41209117del , CM000679.1:g.41209117del GRCh37
NC_000017.9:g.38462643del NCBI36
NG_005905.2:g.160885del , LRG_292:g.160885del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.5230del MANE Select NP_009225.1:p.Arg1744GlufsTer21
ENST00000357654.9:c.5230del MANE Select ENSP00000350283.3:p.Arg1744GlufsTer21
NM_007294.3:c.5230del , LRG_292t1:c.5230del NP_009225.1:p.Arg1744GlufsTer21
NM_007297.3:c.5089del NP_009228.2:p.Arg1697GlufsTer21
NM_007297.4:c.5089del NP_009228.2:p.Arg1697GlufsTer21
NM_007298.3:c.1918del NP_009229.2:p.Arg640GlufsTer21
NM_007299.3:c.1918del NP_009230.2:p.Arg640GlufsTer21
NM_007299.4:c.1918del NP_009230.2:p.Arg640GlufsTer21
NM_007300.3:c.5293del NP_009231.2:p.Arg1765GlufsTer21
NM_007300.4:c.5293del NP_009231.2:p.Arg1765GlufsTer21
NR_027676.1:n.5366del
NR_027676.2:n.5407del
ENST00000352993.7:c.1804del ENSP00000312236.5:p.Arg602GlufsTer21
ENST00000357654.7:c.5230del ENSP00000350283.3:p.Arg1744GlufsTer21
ENST00000461221.5:c.*5013del ENSP00000418548.1:n.*5013del
ENST00000461574.2:c.5227del ENSP00000417241.2:p.Arg1743GlufsTer21
ENST00000468300.5:c.1918del ENSP00000417148.1:p.Arg640GlufsTer21
ENST00000470026.6:c.5230del ENSP00000419274.2:p.Arg1744GlufsTer21
ENST00000471181.6:c.5293del ENSP00000418960.2:p.Arg1765GlufsTer21
ENST00000471181.7:c.5293del ENSP00000418960.2:p.Arg1765GlufsTer21
ENST00000473961.6:c.5104del ENSP00000420201.2:p.Arg1702GlufsTer21
ENST00000476777.6:c.5224del ENSP00000417554.2:p.Arg1742GlufsTer21
ENST00000477152.6:c.5152del ENSP00000419988.2:p.Arg1718GlufsTer21
ENST00000478531.6:c.1918del ENSP00000420412.2:p.Arg640GlufsTer21
ENST00000484087.6:c.1792del ENSP00000419481.2:p.Arg598GlufsTer21
ENST00000489037.2:c.5152del ENSP00000420781.2:p.Arg1718GlufsTer21
ENST00000491747.6:c.1918del ENSP00000420705.2:p.Arg640GlufsTer21
ENST00000493795.5:c.5089del ENSP00000418775.1:p.Arg1697GlufsTer21
ENST00000493919.6:c.1780del ENSP00000418819.2:p.Arg594GlufsTer21
ENST00000494123.6:c.5230del ENSP00000419103.2:p.Arg1744GlufsTer21
ENST00000497488.2:c.4342del ENSP00000418986.2:p.Arg1448GlufsTer21
ENST00000586385.5:c.160del ENSP00000465818.1:p.Arg54GlufsTer21
ENST00000591534.5:c.703del ENSP00000467329.1:p.Arg235GlufsTer21
ENST00000591849.5:c.-98-6909del ENSP00000465347.1:n.-98-6909del
ENST00000618469.2:c.5230del ENSP00000478114.2:p.Arg1744GlufsTer21
ENST00000634433.2:c.5107del ENSP00000489431.2:p.Arg1703GlufsTer21
ENST00000644379.1:c.1617del
ENST00000644379.2:c.5296del ENSP00000496570.2:p.Arg1766GlufsTer21
ENST00000644555.2:c.1780del ENSP00000494614.2:p.Arg594GlufsTer21
ENST00000652672.2:c.5089del ENSP00000498906.2:p.Arg1697GlufsTer21