Canonical Allele Identifier: CA645616276
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652323_77652324del , CM000685.2:g.77652323_77652324del GRCh38
NC_000023.10:g.76907813_76907814del , CM000685.1:g.76907813_76907814del GRCh37
NC_000023.9:g.76794469_76794470del NCBI36
NG_008838.2:g.138899_138900del
NG_008838.3:g.138947_138948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4348_4349del MANE Select ENSP00000362441.4:p.Glu1450ArgfsTer16
ENST00000373344.9:c.4348_4349del ENSP00000362441.4:p.Glu1450ArgfsTer16
ENST00000395603.7:c.4234_4235del ENSP00000378967.3:p.Glu1412ArgfsTer16
ENST00000480283.5:c.*3976_*3977del ENSP00000480196.1:n.*3976_*3977del
NM_000489.4:c.4348_4349del NP_000480.3:p.Glu1450ArgfsTer16
NM_138270.3:c.4234_4235del NP_612114.2:p.Glu1412ArgfsTer16
XM_005262153.3:c.4345_4346del XP_005262210.2:p.Glu1449ArgfsTer16
XM_005262154.3:c.4261_4262del XP_005262211.2:p.Glu1421ArgfsTer16
XM_005262155.3:c.4231_4232del XP_005262212.2:p.Glu1411ArgfsTer16
XM_005262156.3:c.4183_4184del XP_005262213.2:p.Glu1395ArgfsTer16
XM_005262157.3:c.4144_4145del XP_005262214.2:p.Glu1382ArgfsTer16
XM_006724666.2:c.4231_4232del XP_006724729.1:p.Glu1411ArgfsTer16
XM_006724667.2:c.4069_4070del XP_006724730.1:p.Glu1357ArgfsTer16
XM_006724668.2:c.4348_4349del XP_006724731.1:p.Glu1450ArgfsTer16
XR_938400.1:n.4616_4617del
NM_000489.5:c.4348_4349del NP_000480.3:p.Glu1450ArgfsTer16
XM_005262153.5:c.4345_4346del XP_005262210.2:p.Glu1449ArgfsTer16
XM_005262154.5:c.4261_4262del XP_005262211.2:p.Glu1421ArgfsTer16
XM_005262155.4:c.4231_4232del XP_005262212.2:p.Glu1411ArgfsTer16
XM_005262156.4:c.4183_4184del XP_005262213.2:p.Glu1395ArgfsTer16
XM_005262157.5:c.4144_4145del XP_005262214.2:p.Glu1382ArgfsTer16
XM_006724666.4:c.4231_4232del XP_006724729.1:p.Glu1411ArgfsTer16
XM_006724667.3:c.4069_4070del XP_006724730.1:p.Glu1357ArgfsTer16
XM_006724668.3:c.4348_4349del XP_006724731.1:p.Glu1450ArgfsTer16
XM_017029601.2:c.4258_4259del XP_016885090.1:p.Glu1420ArgfsTer16
XM_017029602.1:c.4228_4229del XP_016885091.1:p.Glu1410ArgfsTer16
XM_017029603.1:c.4180_4181del XP_016885092.1:p.Glu1394ArgfsTer16
XM_017029604.2:c.4147_4148del XP_016885093.1:p.Glu1383ArgfsTer16
XM_017029605.1:c.4144_4145del XP_016885094.1:p.Glu1382ArgfsTer16
XM_017029606.2:c.4117_4118del XP_016885095.1:p.Glu1373ArgfsTer16
XM_017029607.2:c.4114_4115del XP_016885096.1:p.Glu1372ArgfsTer16
XM_017029608.2:c.4066_4067del XP_016885097.1:p.Glu1356ArgfsTer16
XM_017029609.1:c.4030_4031del XP_016885098.1:p.Glu1344ArgfsTer16
XM_017029610.1:c.4027_4028del XP_016885099.1:p.Glu1343ArgfsTer16
XM_017029611.1:c.3982_3983del XP_016885100.1:p.Glu1328ArgfsTer16
XR_001755700.2:n.4573_4574del
NM_138270.4:c.4234_4235del NP_612114.2:p.Glu1412ArgfsTer16
NM_000489.6:c.4348_4349del MANE Select NP_000480.3:p.Glu1450ArgfsTer16
NM_138270.5:c.4234_4235del NP_612114.2:p.Glu1412ArgfsTer16