Canonical Allele Identifier: CA2738724292
Gene: ATRX HGNC NCBI

Linked Data

dbSNP Id: rs2147649995

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77508515del , CM000685.2:g.77508515del GRCh38
NC_000023.10:g.76763993del , CM000685.1:g.76763993del GRCh37
NC_000023.9:g.76650649del NCBI36
NG_008838.2:g.282708del
NG_008838.3:g.282756del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.7316del MANE Select ENSP00000362441.4:p.Pro2439GlnfsTer6
ENST00000675732.1:c.2414del ENSP00000502598.1:p.Pro805GlnfsTer6
ENST00000373344.9:c.7316del ENSP00000362441.4:p.Pro2439GlnfsTer6
ENST00000395603.7:c.7202del ENSP00000378967.3:p.Pro2401GlnfsTer6
ENST00000480283.5:c.*6944del ENSP00000480196.1:n.*6944del
ENST00000623706.3:n.5636del
ENST00000624766.1:n.547del
NM_000489.4:c.7316del NP_000480.3:p.Pro2439GlnfsTer6
NM_138270.3:c.7202del NP_612114.2:p.Pro2401GlnfsTer6
XM_005262153.3:c.7313del XP_005262210.2:p.Pro2438GlnfsTer6
XM_005262154.3:c.7229del XP_005262211.2:p.Pro2410GlnfsTer6
XM_005262155.3:c.7199del XP_005262212.2:p.Pro2400GlnfsTer6
XM_005262156.3:c.7151del XP_005262213.2:p.Pro2384GlnfsTer6
XM_005262157.3:c.7112del XP_005262214.2:p.Pro2371GlnfsTer6
XM_006724666.2:c.7199del XP_006724729.1:p.Pro2400GlnfsTer6
XM_006724667.2:c.7037del XP_006724730.1:p.Pro2346GlnfsTer6
XR_938400.1:n.8908del
NM_000489.5:c.7316del NP_000480.3:p.Pro2439GlnfsTer6
XM_005262153.5:c.7313del XP_005262210.2:p.Pro2438GlnfsTer6
XM_005262154.5:c.7229del XP_005262211.2:p.Pro2410GlnfsTer6
XM_005262155.4:c.7199del XP_005262212.2:p.Pro2400GlnfsTer6
XM_005262156.4:c.7151del XP_005262213.2:p.Pro2384GlnfsTer6
XM_005262157.5:c.7112del XP_005262214.2:p.Pro2371GlnfsTer6
XM_006724666.4:c.7199del XP_006724729.1:p.Pro2400GlnfsTer6
XM_006724667.3:c.7037del XP_006724730.1:p.Pro2346GlnfsTer6
XM_017029601.2:c.7226del XP_016885090.1:p.Pro2409GlnfsTer6
XM_017029602.1:c.7196del XP_016885091.1:p.Pro2399GlnfsTer6
XM_017029603.1:c.7148del XP_016885092.1:p.Pro2383GlnfsTer6
XM_017029604.2:c.7115del XP_016885093.1:p.Pro2372GlnfsTer6
XM_017029605.1:c.7112del XP_016885094.1:p.Pro2371GlnfsTer6
XM_017029606.2:c.7085del XP_016885095.1:p.Pro2362GlnfsTer6
XM_017029607.2:c.7082del XP_016885096.1:p.Pro2361GlnfsTer6
XM_017029608.2:c.7034del XP_016885097.1:p.Pro2345GlnfsTer6
XM_017029609.1:c.6998del XP_016885098.1:p.Pro2333GlnfsTer6
XM_017029610.1:c.6995del XP_016885099.1:p.Pro2332GlnfsTer6
XM_017029611.1:c.6950del XP_016885100.1:p.Pro2317GlnfsTer6
XR_001755700.2:n.7615del
NM_138270.4:c.7202del NP_612114.2:p.Pro2401GlnfsTer6
NM_000489.6:c.7316del MANE Select NP_000480.3:p.Pro2439GlnfsTer6
NM_138270.5:c.7202del NP_612114.2:p.Pro2401GlnfsTer6