Canonical Allele Identifier: CA2578573598
Gene: DXO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31969891del , CM000668.2:g.31969891del GRCh38
NC_000006.11:g.31937668del , CM000668.1:g.31937668del GRCh37
NC_000006.10:g.32045647del NCBI36
NG_032652.1:g.16088del

Transcript Alleles

HGVS Amino-acid Change
ENST00000337523.10:c.1179del MANE Select ENSP00000337759.5:p.Ser394LeufsTer18
ENST00000337523.9:c.1179del ENSP00000337759.5:p.Ser394LeufsTer18
ENST00000375349.7:c.1179del ENSP00000364498.3:p.Ser394LeufsTer18
ENST00000375356.7:c.1179del ENSP00000364505.3:p.Ser394LeufsTer?
ENST00000473976.1:n.1951del
ENST00000477826.5:n.2014del
ENST00000478221.5:n.1060del
ENST00000485557.5:n.1799del
ENST00000491327.5:n.1316del
ENST00000495340.5:c.512del
ENST00000498357.1:n.1623del
NM_005510.3:c.1179del NP_005501.2:p.Ser394LeufsTer18
XM_006715005.2:c.1179del XP_006715068.1:p.Ser394LeufsTer18
XM_006715007.2:c.627del XP_006715070.1:p.Ser210LeufsTer18
XR_926081.1:n.1652del
XR_926082.1:n.1679del
XM_006715005.3:c.1179del XP_006715068.1:p.Ser394LeufsTer18
XM_017010329.1:c.627del XP_016865818.1:p.Ser210LeufsTer18
XR_002956262.1:n.1411del
XR_002956263.1:n.1577del
XR_002956264.1:n.1477del
XR_926082.2:n.1419del
NM_005510.4:c.1179del MANE Select NP_005501.2:p.Ser394LeufsTer18
NM_001371205.1:c.627del NP_001358134.1:p.Ser210LeufsTer18
NM_001371206.1:c.627del NP_001358135.1:p.Ser210LeufsTer18