Canonical Allele Identifier: CA2540296312
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652294del , CM000685.2:g.77652294del GRCh38
NC_000023.10:g.76907784del , CM000685.1:g.76907784del GRCh37
NC_000023.9:g.76794440del NCBI36
NG_008838.2:g.138929del
NG_008838.3:g.138977del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4378del MANE Select ENSP00000362441.4:p.Glu1460LysfsTer30
ENST00000373344.9:c.4378del ENSP00000362441.4:p.Glu1460LysfsTer30
ENST00000395603.7:c.4264del ENSP00000378967.3:p.Glu1422LysfsTer30
ENST00000480283.5:c.*4006del ENSP00000480196.1:n.*4006del
NM_000489.4:c.4378del NP_000480.3:p.Glu1460LysfsTer30
NM_138270.3:c.4264del NP_612114.2:p.Glu1422LysfsTer30
XM_005262153.3:c.4375del XP_005262210.2:p.Glu1459LysfsTer30
XM_005262154.3:c.4291del XP_005262211.2:p.Glu1431LysfsTer30
XM_005262155.3:c.4261del XP_005262212.2:p.Glu1421LysfsTer30
XM_005262156.3:c.4213del XP_005262213.2:p.Glu1405LysfsTer30
XM_005262157.3:c.4174del XP_005262214.2:p.Glu1392LysfsTer30
XM_006724666.2:c.4261del XP_006724729.1:p.Glu1421LysfsTer30
XM_006724667.2:c.4099del XP_006724730.1:p.Glu1367LysfsTer30
XM_006724668.2:c.4378del XP_006724731.1:p.Glu1460LysfsTer30
XR_938400.1:n.4646del
NM_000489.5:c.4378del NP_000480.3:p.Glu1460LysfsTer30
XM_005262153.5:c.4375del XP_005262210.2:p.Glu1459LysfsTer30
XM_005262154.5:c.4291del XP_005262211.2:p.Glu1431LysfsTer30
XM_005262155.4:c.4261del XP_005262212.2:p.Glu1421LysfsTer30
XM_005262156.4:c.4213del XP_005262213.2:p.Glu1405LysfsTer30
XM_005262157.5:c.4174del XP_005262214.2:p.Glu1392LysfsTer30
XM_006724666.4:c.4261del XP_006724729.1:p.Glu1421LysfsTer30
XM_006724667.3:c.4099del XP_006724730.1:p.Glu1367LysfsTer30
XM_006724668.3:c.4378del XP_006724731.1:p.Glu1460LysfsTer30
XM_017029601.2:c.4288del XP_016885090.1:p.Glu1430LysfsTer30
XM_017029602.1:c.4258del XP_016885091.1:p.Glu1420LysfsTer30
XM_017029603.1:c.4210del XP_016885092.1:p.Glu1404LysfsTer30
XM_017029604.2:c.4177del XP_016885093.1:p.Glu1393LysfsTer30
XM_017029605.1:c.4174del XP_016885094.1:p.Glu1392LysfsTer30
XM_017029606.2:c.4147del XP_016885095.1:p.Glu1383LysfsTer30
XM_017029607.2:c.4144del XP_016885096.1:p.Glu1382LysfsTer30
XM_017029608.2:c.4096del XP_016885097.1:p.Glu1366LysfsTer30
XM_017029609.1:c.4060del XP_016885098.1:p.Glu1354LysfsTer30
XM_017029610.1:c.4057del XP_016885099.1:p.Glu1353LysfsTer30
XM_017029611.1:c.4012del XP_016885100.1:p.Glu1338LysfsTer30
XR_001755700.2:n.4603del
NM_138270.4:c.4264del NP_612114.2:p.Glu1422LysfsTer30
NM_000489.6:c.4378del MANE Select NP_000480.3:p.Glu1460LysfsTer30
NM_138270.5:c.4264del NP_612114.2:p.Glu1422LysfsTer30