Canonical Allele Identifier: CA2557720978
Gene: ATRX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.77652274del , CM000685.2:g.77652274del GRCh38
NC_000023.10:g.76907764del , CM000685.1:g.76907764del GRCh37
NC_000023.9:g.76794420del NCBI36
NG_008838.2:g.138951del
NG_008838.3:g.138999del

Transcript Alleles

HGVS Amino-acid Change
ENST00000373344.11:c.4400del MANE Select ENSP00000362441.4:p.Asn1467MetfsTer23
ENST00000373344.9:c.4400del ENSP00000362441.4:p.Asn1467MetfsTer23
ENST00000395603.7:c.4286del ENSP00000378967.3:p.Asn1429MetfsTer23
ENST00000480283.5:c.*4028del ENSP00000480196.1:n.*4028del
ENST00000623242.3:c.6del
NM_000489.4:c.4400del NP_000480.3:p.Asn1467MetfsTer23
NM_138270.3:c.4286del NP_612114.2:p.Asn1429MetfsTer23
XM_005262153.3:c.4397del XP_005262210.2:p.Asn1466MetfsTer23
XM_005262154.3:c.4313del XP_005262211.2:p.Asn1438MetfsTer23
XM_005262155.3:c.4283del XP_005262212.2:p.Asn1428MetfsTer23
XM_005262156.3:c.4235del XP_005262213.2:p.Asn1412MetfsTer23
XM_005262157.3:c.4196del XP_005262214.2:p.Asn1399MetfsTer23
XM_006724666.2:c.4283del XP_006724729.1:p.Asn1428MetfsTer23
XM_006724667.2:c.4121del XP_006724730.1:p.Asn1374MetfsTer23
XM_006724668.2:c.4400del XP_006724731.1:p.Asn1467MetfsTer23
XR_938400.1:n.4668del
NM_000489.5:c.4400del NP_000480.3:p.Asn1467MetfsTer23
XM_005262153.5:c.4397del XP_005262210.2:p.Asn1466MetfsTer23
XM_005262154.5:c.4313del XP_005262211.2:p.Asn1438MetfsTer23
XM_005262155.4:c.4283del XP_005262212.2:p.Asn1428MetfsTer23
XM_005262156.4:c.4235del XP_005262213.2:p.Asn1412MetfsTer23
XM_005262157.5:c.4196del XP_005262214.2:p.Asn1399MetfsTer23
XM_006724666.4:c.4283del XP_006724729.1:p.Asn1428MetfsTer23
XM_006724667.3:c.4121del XP_006724730.1:p.Asn1374MetfsTer23
XM_006724668.3:c.4400del XP_006724731.1:p.Asn1467MetfsTer23
XM_017029601.2:c.4310del XP_016885090.1:p.Asn1437MetfsTer23
XM_017029602.1:c.4280del XP_016885091.1:p.Asn1427MetfsTer23
XM_017029603.1:c.4232del XP_016885092.1:p.Asn1411MetfsTer23
XM_017029604.2:c.4199del XP_016885093.1:p.Asn1400MetfsTer23
XM_017029605.1:c.4196del XP_016885094.1:p.Asn1399MetfsTer23
XM_017029606.2:c.4169del XP_016885095.1:p.Asn1390MetfsTer23
XM_017029607.2:c.4166del XP_016885096.1:p.Asn1389MetfsTer23
XM_017029608.2:c.4118del XP_016885097.1:p.Asn1373MetfsTer23
XM_017029609.1:c.4082del XP_016885098.1:p.Asn1361MetfsTer23
XM_017029610.1:c.4079del XP_016885099.1:p.Asn1360MetfsTer23
XM_017029611.1:c.4034del XP_016885100.1:p.Asn1345MetfsTer23
XR_001755700.2:n.4625del
NM_138270.4:c.4286del NP_612114.2:p.Asn1429MetfsTer23
NM_000489.6:c.4400del MANE Select NP_000480.3:p.Asn1467MetfsTer23
NM_138270.5:c.4286del NP_612114.2:p.Asn1429MetfsTer23