Canonical Allele Identifier: CA2738724190
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2147648016

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508458del , CM000685.2:g.77508458del GRCh38
NC_000023.10:g.76763936del , CM000685.1:g.76763936del GRCh37
NC_000023.9:g.76650592del NCBI36
NG_008838.2:g.282765del
NG_008838.3:g.282813del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7373del MANE Select ENSP00000362441.4:p.Gly2458GlufsTer22
ENST00000675732.1:c.2471del ENSP00000502598.1:p.Gly824GlufsTer22
ENST00000373344.9:c.7373del ENSP00000362441.4:p.Gly2458GlufsTer22
ENST00000395603.7:c.7259del ENSP00000378967.3:p.Gly2420GlufsTer22
ENST00000480283.5:c.*7001del ENSP00000480196.1:n.*7001del
ENST00000623706.3:n.5693del
NM_000489.4:c.7373del NP_000480.3:p.Gly2458GlufsTer22
NM_138270.3:c.7259del NP_612114.2:p.Gly2420GlufsTer22
XM_005262153.3:c.7370del XP_005262210.2:p.Gly2457GlufsTer22
XM_005262154.3:c.7286del XP_005262211.2:p.Gly2429GlufsTer22
XM_005262155.3:c.7256del XP_005262212.2:p.Gly2419GlufsTer22
XM_005262156.3:c.7208del XP_005262213.2:p.Gly2403GlufsTer22
XM_005262157.3:c.7169del XP_005262214.2:p.Gly2390GlufsTer22
XM_006724666.2:c.7256del XP_006724729.1:p.Gly2419GlufsTer22
XM_006724667.2:c.7094del XP_006724730.1:p.Gly2365GlufsTer22
XR_938400.1:n.8965del
NM_000489.5:c.7373del NP_000480.3:p.Gly2458GlufsTer22
XM_005262153.5:c.7370del XP_005262210.2:p.Gly2457GlufsTer22
XM_005262154.5:c.7286del XP_005262211.2:p.Gly2429GlufsTer22
XM_005262155.4:c.7256del XP_005262212.2:p.Gly2419GlufsTer22
XM_005262156.4:c.7208del XP_005262213.2:p.Gly2403GlufsTer22
XM_005262157.5:c.7169del XP_005262214.2:p.Gly2390GlufsTer22
XM_006724666.4:c.7256del XP_006724729.1:p.Gly2419GlufsTer22
XM_006724667.3:c.7094del XP_006724730.1:p.Gly2365GlufsTer22
XM_017029601.2:c.7283del XP_016885090.1:p.Gly2428GlufsTer22
XM_017029602.1:c.7253del XP_016885091.1:p.Gly2418GlufsTer22
XM_017029603.1:c.7205del XP_016885092.1:p.Gly2402GlufsTer22
XM_017029604.2:c.7172del XP_016885093.1:p.Gly2391GlufsTer22
XM_017029605.1:c.7169del XP_016885094.1:p.Gly2390GlufsTer22
XM_017029606.2:c.7142del XP_016885095.1:p.Gly2381GlufsTer22
XM_017029607.2:c.7139del XP_016885096.1:p.Gly2380GlufsTer22
XM_017029608.2:c.7091del XP_016885097.1:p.Gly2364GlufsTer22
XM_017029609.1:c.7055del XP_016885098.1:p.Gly2352GlufsTer22
XM_017029610.1:c.7052del XP_016885099.1:p.Gly2351GlufsTer22
XM_017029611.1:c.7007del XP_016885100.1:p.Gly2336GlufsTer22
XR_001755700.2:n.7672del
NM_138270.4:c.7259del NP_612114.2:p.Gly2420GlufsTer22
NM_000489.6:c.7373del MANE Select NP_000480.3:p.Gly2458GlufsTer22
NM_138270.5:c.7259del NP_612114.2:p.Gly2420GlufsTer22