Canonical Allele Identifier: CA2438956385
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2066169808

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77589814_77589815del , CM000685.2:g.77589814_77589815del GRCh38
NC_000023.10:g.76845284_76845285del , CM000685.1:g.76845284_76845285del GRCh37
NC_000023.9:g.76731940_76731941del NCBI36
NG_008838.2:g.201410_201411del
NG_008838.3:g.201458_201459del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.6217+22_6217+23del MANE Select ENSP00000362441.4:n.6217+22_6217+23del
ENST00000636868.1:n.39+22_39+23del
ENST00000675732.1:c.1315+22_1315+23del ENSP00000502598.1:n.1315+22_1315+23del
ENST00000373344.9:c.6217+22_6217+23del ENSP00000362441.4:n.6217+22_6217+23del
ENST00000395603.7:c.6103+22_6103+23del ENSP00000378967.3:n.6103+22_6103+23del
ENST00000480283.5:c.*5845+22_*5845+23del ENSP00000480196.1:n.*5845+22_*5845+23del
ENST00000623316.1:c.701+22_701+23del
ENST00000623706.3:n.3287+22_3287+23del
NM_000489.4:c.6217+22_6217+23del NP_000480.3:n.6217+22_6217+23del
NM_138270.3:c.6103+22_6103+23del NP_612114.2:n.6103+22_6103+23del
XM_005262153.3:c.6214+22_6214+23del XP_005262210.2:n.6214+22_6214+23del
XM_005262154.3:c.6130+22_6130+23del XP_005262211.2:n.6130+22_6130+23del
XM_005262155.3:c.6100+22_6100+23del XP_005262212.2:n.6100+22_6100+23del
XM_005262156.3:c.6052+22_6052+23del XP_005262213.2:n.6052+22_6052+23del
XM_005262157.3:c.6013+22_6013+23del XP_005262214.2:n.6013+22_6013+23del
XM_006724666.2:c.6100+22_6100+23del XP_006724729.1:n.6100+22_6100+23del
XM_006724667.2:c.5938+22_5938+23del XP_006724730.1:n.5938+22_5938+23del
XR_938400.1:n.6559+22_6559+23del
NM_000489.5:c.6217+22_6217+23del NP_000480.3:n.6217+22_6217+23del
XM_005262153.5:c.6214+22_6214+23del XP_005262210.2:n.6214+22_6214+23del
XM_005262154.5:c.6130+22_6130+23del XP_005262211.2:n.6130+22_6130+23del
XM_005262155.4:c.6100+22_6100+23del XP_005262212.2:n.6100+22_6100+23del
XM_005262156.4:c.6052+22_6052+23del XP_005262213.2:n.6052+22_6052+23del
XM_005262157.5:c.6013+22_6013+23del XP_005262214.2:n.6013+22_6013+23del
XM_006724666.4:c.6100+22_6100+23del XP_006724729.1:n.6100+22_6100+23del
XM_006724667.3:c.5938+22_5938+23del XP_006724730.1:n.5938+22_5938+23del
XM_017029601.2:c.6127+22_6127+23del XP_016885090.1:n.6127+22_6127+23del
XM_017029602.1:c.6097+22_6097+23del XP_016885091.1:n.6097+22_6097+23del
XM_017029603.1:c.6049+22_6049+23del XP_016885092.1:n.6049+22_6049+23del
XM_017029604.2:c.6016+22_6016+23del XP_016885093.1:n.6016+22_6016+23del
XM_017029605.1:c.6013+22_6013+23del XP_016885094.1:n.6013+22_6013+23del
XM_017029606.2:c.5986+22_5986+23del XP_016885095.1:n.5986+22_5986+23del
XM_017029607.2:c.5983+22_5983+23del XP_016885096.1:n.5983+22_5983+23del
XM_017029608.2:c.5935+22_5935+23del XP_016885097.1:n.5935+22_5935+23del
XM_017029609.1:c.5899+22_5899+23del XP_016885098.1:n.5899+22_5899+23del
XM_017029610.1:c.5896+22_5896+23del XP_016885099.1:n.5896+22_5896+23del
XM_017029611.1:c.5851+22_5851+23del XP_016885100.1:n.5851+22_5851+23del
XR_001755700.2:n.6516+22_6516+23del
NM_138270.4:c.6103+22_6103+23del NP_612114.2:n.6103+22_6103+23del
NM_000489.6:c.6217+22_6217+23del MANE Select NP_000480.3:n.6217+22_6217+23del
NM_138270.5:c.6103+22_6103+23del NP_612114.2:n.6103+22_6103+23del