Canonical Allele Identifier: CA2695234704
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508460_77508464del , CM000685.2:g.77508460_77508464del GRCh38
NC_000023.10:g.76763938_76763942del , CM000685.1:g.76763938_76763942del GRCh37
NC_000023.9:g.76650594_76650598del NCBI36
NG_008838.2:g.282759_282763del
NG_008838.3:g.282807_282811del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7367_7371del MANE Select ENSP00000362441.4:p.Met2456ArgfsTer?
ENST00000675732.1:c.2465_2469del ENSP00000502598.1:p.Met822ArgfsTer?
ENST00000373344.9:c.7367_7371del ENSP00000362441.4:p.Met2456ArgfsTer?
ENST00000395603.7:c.7253_7257del ENSP00000378967.3:p.Met2418ArgfsTer?
ENST00000480283.5:c.*6995_*6999del ENSP00000480196.1:n.*6995_*6999del
ENST00000623706.3:n.5687_5691del
NM_000489.4:c.7367_7371del NP_000480.3:p.Met2456ArgfsTer?
NM_138270.3:c.7253_7257del NP_612114.2:p.Met2418ArgfsTer?
XM_005262153.3:c.7364_7368del XP_005262210.2:p.Met2455ArgfsTer?
XM_005262154.3:c.7280_7284del XP_005262211.2:p.Met2427ArgfsTer?
XM_005262155.3:c.7250_7254del XP_005262212.2:p.Met2417ArgfsTer?
XM_005262156.3:c.7202_7206del XP_005262213.2:p.Met2401ArgfsTer?
XM_005262157.3:c.7163_7167del XP_005262214.2:p.Met2388ArgfsTer?
XM_006724666.2:c.7250_7254del XP_006724729.1:p.Met2417ArgfsTer?
XM_006724667.2:c.7088_7092del XP_006724730.1:p.Met2363ArgfsTer?
XR_938400.1:n.8959_8963del
NM_000489.5:c.7367_7371del NP_000480.3:p.Met2456ArgfsTer?
XM_005262153.5:c.7364_7368del XP_005262210.2:p.Met2455ArgfsTer?
XM_005262154.5:c.7280_7284del XP_005262211.2:p.Met2427ArgfsTer?
XM_005262155.4:c.7250_7254del XP_005262212.2:p.Met2417ArgfsTer?
XM_005262156.4:c.7202_7206del XP_005262213.2:p.Met2401ArgfsTer?
XM_005262157.5:c.7163_7167del XP_005262214.2:p.Met2388ArgfsTer?
XM_006724666.4:c.7250_7254del XP_006724729.1:p.Met2417ArgfsTer?
XM_006724667.3:c.7088_7092del XP_006724730.1:p.Met2363ArgfsTer?
XM_017029601.2:c.7277_7281del XP_016885090.1:p.Met2426ArgfsTer?
XM_017029602.1:c.7247_7251del XP_016885091.1:p.Met2416ArgfsTer?
XM_017029603.1:c.7199_7203del XP_016885092.1:p.Met2400ArgfsTer?
XM_017029604.2:c.7166_7170del XP_016885093.1:p.Met2389ArgfsTer?
XM_017029605.1:c.7163_7167del XP_016885094.1:p.Met2388ArgfsTer?
XM_017029606.2:c.7136_7140del XP_016885095.1:p.Met2379ArgfsTer?
XM_017029607.2:c.7133_7137del XP_016885096.1:p.Met2378ArgfsTer?
XM_017029608.2:c.7085_7089del XP_016885097.1:p.Met2362ArgfsTer?
XM_017029609.1:c.7049_7053del XP_016885098.1:p.Met2350ArgfsTer?
XM_017029610.1:c.7046_7050del XP_016885099.1:p.Met2349ArgfsTer?
XM_017029611.1:c.7001_7005del XP_016885100.1:p.Met2334ArgfsTer?
XR_001755700.2:n.7666_7670del
NM_138270.4:c.7253_7257del NP_612114.2:p.Met2418ArgfsTer?
NM_000489.6:c.7367_7371del MANE Select NP_000480.3:p.Met2456ArgfsTer?
NM_138270.5:c.7253_7257del NP_612114.2:p.Met2418ArgfsTer?