Canonical Allele Identifier: CA230925
Gene: ATRX HGNC NCBI

Linked Data

ClinVar Variation Id: 128497
dbSNP Id: rs587780288

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652323_77652325del , CM000685.2:g.77652323_77652325del GRCh38
NC_000023.10:g.76907813_76907815del , CM000685.1:g.76907813_76907815del GRCh37
NC_000023.9:g.76794469_76794471del NCBI36
NG_008838.2:g.138901_138903del
NG_008838.3:g.138949_138951del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4350_4352del MANE Select ENSP00000362441.4:p.Glu1451del
ENST00000373344.9:c.4350_4352del ENSP00000362441.4:p.Glu1451del
ENST00000395603.7:c.4236_4238del ENSP00000378967.3:p.Glu1413del
ENST00000480283.5:c.*3978_*3980del ENSP00000480196.1:n.*3978_*3980del
NM_000489.4:c.4350_4352del NP_000480.3:p.Glu1451del
NM_138270.3:c.4236_4238del NP_612114.2:p.Glu1413del
XM_005262153.3:c.4347_4349del XP_005262210.2:p.Glu1450del
XM_005262154.3:c.4263_4265del XP_005262211.2:p.Glu1422del
XM_005262155.3:c.4233_4235del XP_005262212.2:p.Glu1412del
XM_005262156.3:c.4185_4187del XP_005262213.2:p.Glu1396del
XM_005262157.3:c.4146_4148del XP_005262214.2:p.Glu1383del
XM_006724666.2:c.4233_4235del XP_006724729.1:p.Glu1412del
XM_006724667.2:c.4071_4073del XP_006724730.1:p.Glu1358del
XM_006724668.2:c.4350_4352del XP_006724731.1:p.Glu1451del
XR_938400.1:n.4618_4620del
NM_000489.5:c.4350_4352del NP_000480.3:p.Glu1451del
XM_005262153.5:c.4347_4349del XP_005262210.2:p.Glu1450del
XM_005262154.5:c.4263_4265del XP_005262211.2:p.Glu1422del
XM_005262155.4:c.4233_4235del XP_005262212.2:p.Glu1412del
XM_005262156.4:c.4185_4187del XP_005262213.2:p.Glu1396del
XM_005262157.5:c.4146_4148del XP_005262214.2:p.Glu1383del
XM_006724666.4:c.4233_4235del XP_006724729.1:p.Glu1412del
XM_006724667.3:c.4071_4073del XP_006724730.1:p.Glu1358del
XM_006724668.3:c.4350_4352del XP_006724731.1:p.Glu1451del
XM_017029601.2:c.4260_4262del XP_016885090.1:p.Glu1421del
XM_017029602.1:c.4230_4232del XP_016885091.1:p.Glu1411del
XM_017029603.1:c.4182_4184del XP_016885092.1:p.Glu1395del
XM_017029604.2:c.4149_4151del XP_016885093.1:p.Glu1384del
XM_017029605.1:c.4146_4148del XP_016885094.1:p.Glu1383del
XM_017029606.2:c.4119_4121del XP_016885095.1:p.Glu1374del
XM_017029607.2:c.4116_4118del XP_016885096.1:p.Glu1373del
XM_017029608.2:c.4068_4070del XP_016885097.1:p.Glu1357del
XM_017029609.1:c.4032_4034del XP_016885098.1:p.Glu1345del
XM_017029610.1:c.4029_4031del XP_016885099.1:p.Glu1344del
XM_017029611.1:c.3984_3986del XP_016885100.1:p.Glu1329del
XR_001755700.2:n.4575_4577del
NM_138270.4:c.4236_4238del NP_612114.2:p.Glu1413del
NM_000489.6:c.4350_4352del MANE Select NP_000480.3:p.Glu1451del
NM_138270.5:c.4236_4238del NP_612114.2:p.Glu1413del