Canonical Allele Identifier: CA2579648638
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508430del , CM000685.2:g.77508430del GRCh38
NC_000023.10:g.76763908del , CM000685.1:g.76763908del GRCh37
NC_000023.9:g.76650564del NCBI36
NG_008838.2:g.282792del
NG_008838.3:g.282840del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7400del MANE Select ENSP00000362441.4:p.Met2467SerfsTer13
ENST00000675732.1:c.2498del ENSP00000502598.1:p.Met833SerfsTer13
ENST00000373344.9:c.7400del ENSP00000362441.4:p.Met2467SerfsTer13
ENST00000395603.7:c.7286del ENSP00000378967.3:p.Met2429SerfsTer13
ENST00000480283.5:c.*7028del ENSP00000480196.1:n.*7028del
ENST00000623706.3:n.5720del
NM_000489.4:c.7400del NP_000480.3:p.Met2467SerfsTer13
NM_138270.3:c.7286del NP_612114.2:p.Met2429SerfsTer13
XM_005262153.3:c.7397del XP_005262210.2:p.Met2466SerfsTer13
XM_005262154.3:c.7313del XP_005262211.2:p.Met2438SerfsTer13
XM_005262155.3:c.7283del XP_005262212.2:p.Met2428SerfsTer13
XM_005262156.3:c.7235del XP_005262213.2:p.Met2412SerfsTer13
XM_005262157.3:c.7196del XP_005262214.2:p.Met2399SerfsTer13
XM_006724666.2:c.7283del XP_006724729.1:p.Met2428SerfsTer13
XM_006724667.2:c.7121del XP_006724730.1:p.Met2374SerfsTer13
XR_938400.1:n.8992del
NM_000489.5:c.7400del NP_000480.3:p.Met2467SerfsTer13
XM_005262153.5:c.7397del XP_005262210.2:p.Met2466SerfsTer13
XM_005262154.5:c.7313del XP_005262211.2:p.Met2438SerfsTer13
XM_005262155.4:c.7283del XP_005262212.2:p.Met2428SerfsTer13
XM_005262156.4:c.7235del XP_005262213.2:p.Met2412SerfsTer13
XM_005262157.5:c.7196del XP_005262214.2:p.Met2399SerfsTer13
XM_006724666.4:c.7283del XP_006724729.1:p.Met2428SerfsTer13
XM_006724667.3:c.7121del XP_006724730.1:p.Met2374SerfsTer13
XM_017029601.2:c.7310del XP_016885090.1:p.Met2437SerfsTer13
XM_017029602.1:c.7280del XP_016885091.1:p.Met2427SerfsTer13
XM_017029603.1:c.7232del XP_016885092.1:p.Met2411SerfsTer13
XM_017029604.2:c.7199del XP_016885093.1:p.Met2400SerfsTer13
XM_017029605.1:c.7196del XP_016885094.1:p.Met2399SerfsTer13
XM_017029606.2:c.7169del XP_016885095.1:p.Met2390SerfsTer13
XM_017029607.2:c.7166del XP_016885096.1:p.Met2389SerfsTer13
XM_017029608.2:c.7118del XP_016885097.1:p.Met2373SerfsTer13
XM_017029609.1:c.7082del XP_016885098.1:p.Met2361SerfsTer13
XM_017029610.1:c.7079del XP_016885099.1:p.Met2360SerfsTer13
XM_017029611.1:c.7034del XP_016885100.1:p.Met2345SerfsTer13
XR_001755700.2:n.7699del
NM_138270.4:c.7286del NP_612114.2:p.Met2429SerfsTer13
NM_000489.6:c.7400del MANE Select NP_000480.3:p.Met2467SerfsTer13
NM_138270.5:c.7286del NP_612114.2:p.Met2429SerfsTer13