Canonical Allele Identifier: CA2694142558
Gene: ATRX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652269_77652271del , CM000685.2:g.77652269_77652271del GRCh38
NC_000023.10:g.76907759_76907761del , CM000685.1:g.76907759_76907761del GRCh37
NC_000023.9:g.76794415_76794417del NCBI36
NG_008838.2:g.138956_138958del
NG_008838.3:g.139004_139006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4405_4407del MANE Select ENSP00000362441.4:p.Asp1469del
ENST00000373344.9:c.4405_4407del ENSP00000362441.4:p.Asp1469del
ENST00000395603.7:c.4291_4293del ENSP00000378967.3:p.Asp1431del
ENST00000480283.5:c.*4033_*4035del ENSP00000480196.1:n.*4033_*4035del
ENST00000623242.3:c.11_13del
NM_000489.4:c.4405_4407del NP_000480.3:p.Asp1469del
NM_138270.3:c.4291_4293del NP_612114.2:p.Asp1431del
XM_005262153.3:c.4402_4404del XP_005262210.2:p.Asp1468del
XM_005262154.3:c.4318_4320del XP_005262211.2:p.Asp1440del
XM_005262155.3:c.4288_4290del XP_005262212.2:p.Asp1430del
XM_005262156.3:c.4240_4242del XP_005262213.2:p.Asp1414del
XM_005262157.3:c.4201_4203del XP_005262214.2:p.Asp1401del
XM_006724666.2:c.4288_4290del XP_006724729.1:p.Asp1430del
XM_006724667.2:c.4126_4128del XP_006724730.1:p.Asp1376del
XM_006724668.2:c.4405_4407del XP_006724731.1:p.Asp1469del
XR_938400.1:n.4673_4675del
NM_000489.5:c.4405_4407del NP_000480.3:p.Asp1469del
XM_005262153.5:c.4402_4404del XP_005262210.2:p.Asp1468del
XM_005262154.5:c.4318_4320del XP_005262211.2:p.Asp1440del
XM_005262155.4:c.4288_4290del XP_005262212.2:p.Asp1430del
XM_005262156.4:c.4240_4242del XP_005262213.2:p.Asp1414del
XM_005262157.5:c.4201_4203del XP_005262214.2:p.Asp1401del
XM_006724666.4:c.4288_4290del XP_006724729.1:p.Asp1430del
XM_006724667.3:c.4126_4128del XP_006724730.1:p.Asp1376del
XM_006724668.3:c.4405_4407del XP_006724731.1:p.Asp1469del
XM_017029601.2:c.4315_4317del XP_016885090.1:p.Asp1439del
XM_017029602.1:c.4285_4287del XP_016885091.1:p.Asp1429del
XM_017029603.1:c.4237_4239del XP_016885092.1:p.Asp1413del
XM_017029604.2:c.4204_4206del XP_016885093.1:p.Asp1402del
XM_017029605.1:c.4201_4203del XP_016885094.1:p.Asp1401del
XM_017029606.2:c.4174_4176del XP_016885095.1:p.Asp1392del
XM_017029607.2:c.4171_4173del XP_016885096.1:p.Asp1391del
XM_017029608.2:c.4123_4125del XP_016885097.1:p.Asp1375del
XM_017029609.1:c.4087_4089del XP_016885098.1:p.Asp1363del
XM_017029610.1:c.4084_4086del XP_016885099.1:p.Asp1362del
XM_017029611.1:c.4039_4041del XP_016885100.1:p.Asp1347del
XR_001755700.2:n.4630_4632del
NM_138270.4:c.4291_4293del NP_612114.2:p.Asp1431del
NM_000489.6:c.4405_4407del MANE Select NP_000480.3:p.Asp1469del
NM_138270.5:c.4291_4293del NP_612114.2:p.Asp1431del