Canonical Allele Identifier: CA2733917921
Community Standard Title: NM_007294.4(BRCA1):c.815del (p.Glu272GlyfsTer26)
Gene: BRCA1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43094716del , CM000679.2:g.43094716del GRCh38
NC_000017.10:g.41246733del , CM000679.1:g.41246733del GRCh37
NC_000017.9:g.38500259del NCBI36
NG_005905.2:g.123268del , LRG_292:g.123268del

Transcript Alleles

HGVS Amino-acid Change
NM_007294.4:c.815del MANE Select NP_009225.1:p.Glu272GlyfsTer26
ENST00000357654.9:c.815del MANE Select ENSP00000350283.3:p.Glu272GlyfsTer26
NM_007294.3:c.815del , LRG_292t1:c.815del NP_009225.1:p.Glu272GlyfsTer26
NM_007297.3:c.674del NP_009228.2:p.Glu225GlyfsTer26
NM_007297.4:c.674del NP_009228.2:p.Glu225GlyfsTer26
NM_007298.3:c.787+28del NP_009229.2:n.787+28del
NM_007299.3:c.787+28del NP_009230.2:n.787+28del
NM_007299.4:c.787+28del NP_009230.2:n.787+28del
NM_007300.3:c.815del NP_009231.2:p.Glu272GlyfsTer26
NM_007300.4:c.815del NP_009231.2:p.Glu272GlyfsTer26
NR_027676.1:n.951del
NR_027676.2:n.992del
ENST00000352993.7:c.670+1130del ENSP00000312236.5:n.670+1130del
ENST00000354071.7:c.815del ENSP00000326002.7:p.Glu272GlyfsTer26
ENST00000354071.8:n.879del
ENST00000357654.7:c.815del ENSP00000350283.3:p.Glu272GlyfsTer26
ENST00000412061.3:c.166del
ENST00000461221.5:c.*598del ENSP00000418548.1:n.*598del
ENST00000461574.2:c.815del ENSP00000417241.2:p.Glu272GlyfsTer26
ENST00000468300.5:c.787+28del ENSP00000417148.1:n.787+28del
ENST00000470026.5:c.815del ENSP00000419274.1:p.Glu272GlyfsTer26
ENST00000470026.6:c.815del ENSP00000419274.2:p.Glu272GlyfsTer26
ENST00000471181.6:c.815del ENSP00000418960.2:p.Glu272GlyfsTer26
ENST00000471181.7:c.815del ENSP00000418960.2:p.Glu272GlyfsTer26
ENST00000473961.5:c.412del
ENST00000473961.6:c.689del ENSP00000420201.2:p.Glu230GlyfsTer26
ENST00000476777.6:c.812del ENSP00000417554.2:p.Glu271GlyfsTer26
ENST00000477152.5:c.737del ENSP00000419988.1:p.Glu246GlyfsTer26
ENST00000477152.6:c.737del ENSP00000419988.2:p.Glu246GlyfsTer26
ENST00000478531.5:c.784+28del ENSP00000420412.1:n.784+28del
ENST00000478531.6:c.784+28del ENSP00000420412.2:n.784+28del
ENST00000484087.5:c.409+28del ENSP00000419481.1:n.409+28del
ENST00000484087.6:c.664+28del ENSP00000419481.2:n.664+28del
ENST00000487825.5:c.412+28del ENSP00000418212.1:n.412+28del
ENST00000489037.2:c.737del ENSP00000420781.2:p.Glu246GlyfsTer26
ENST00000491747.6:c.787+28del ENSP00000420705.2:n.787+28del
ENST00000492859.5:c.*751del ENSP00000420253.1:n.*751del
ENST00000493795.5:c.674del ENSP00000418775.1:p.Glu225GlyfsTer26
ENST00000493919.5:c.646+28del ENSP00000418819.1:n.646+28del
ENST00000493919.6:c.646+28del ENSP00000418819.2:n.646+28del
ENST00000494123.5:c.815del ENSP00000419103.1:p.Glu272GlyfsTer26
ENST00000494123.6:c.815del ENSP00000419103.2:p.Glu272GlyfsTer26
ENST00000497488.1:c.-74del ENSP00000418986.1:n.-74del
ENST00000497488.2:c.-74del ENSP00000418986.2:n.-74del
ENST00000586385.5:c.4+30466del ENSP00000465818.1:n.4+30466del
ENST00000591534.5:c.-43-20195del ENSP00000467329.1:n.-43-20195del
ENST00000591849.5:c.-99+30555del ENSP00000465347.1:n.-99+30555del
ENST00000618469.2:c.815del ENSP00000478114.2:p.Glu272GlyfsTer26
ENST00000634433.1:c.692del ENSP00000489431.1:p.Glu231GlyfsTer26
ENST00000634433.2:c.692del ENSP00000489431.2:p.Glu231GlyfsTer26
ENST00000642945.1:c.*689del ENSP00000495897.1:n.*689del
ENST00000644379.2:c.815del ENSP00000496570.2:p.Glu272GlyfsTer26
ENST00000644555.2:c.646+28del ENSP00000494614.2:n.646+28del
ENST00000652672.1:c.674del ENSP00000498906.1:p.Glu225GlyfsTer26
ENST00000652672.2:c.674del ENSP00000498906.2:p.Glu225GlyfsTer26
ENST00000700182.1:c.706+28del ENSP00000514849.1:n.706+28del
ENST00000700183.1:c.*823del ENSP00000514850.1:n.*823del