Canonical Allele Identifier: CA1261201472
Gene: DGUOK HGNC NCBI
DGUOK-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1683292480

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73958412_73958418del , CM000664.2:g.73958412_73958418del GRCh38
NC_000002.11:g.74185539_74185545del , CM000664.1:g.74185539_74185545del GRCh37
NC_000002.10:g.74039047_74039053del NCBI36
NG_008044.1:g.36587_36593del

Transcript Alleles

HGVS Amino-acid Change
ENST00000264093.9:c.807+167_807+173del (DGUOK) MANE Select ENSP00000264093.4:n.807+167_807+173del
ENST00000264093.8:c.807+167_807+173del (DGUOK) ENSP00000264093.4:n.807+167_807+173del
ENST00000348222.3:c.543+167_543+173del (DGUOK) ENSP00000306964.3:n.543+167_543+173del
ENST00000418996.5:c.*160+167_*160+173del (DGUOK) ENSP00000408209.1:n.*160+167_*160+173del
ENST00000462685.1:n.636+167_636+173del (DGUOK)
ENST00000629438.2:c.*424+167_*424+173del (DGUOK) ENSP00000487122.1:n.*424+167_*424+173del
NM_080916.2:c.807+167_807+173del (DGUOK) NP_550438.1:n.807+167_807+173del
NM_080918.2:c.543+167_543+173del (DGUOK) NP_550440.1:n.543+167_543+173del
NR_104029.1:n.332-208_332-202del (DGUOK-AS1)
NR_104030.1:n.306-208_306-202del (DGUOK-AS1)
XM_005264173.2:c.516+167_516+173del (DGUOK) XP_005264230.1:n.516+167_516+173del
XM_005264174.1:c.516+167_516+173del (DGUOK) XP_005264231.1:n.516+167_516+173del
XM_011532647.1:c.789+167_789+173del (DGUOK) XP_011530949.1:n.789+167_789+173del
XM_011532648.1:c.498+167_498+173del (DGUOK) XP_011530950.1:n.498+167_498+173del
XR_244926.2:n.772+167_772+173del (DGUOK)
NM_001318859.1:c.525+167_525+173del (DGUOK) NP_001305788.1:n.525+167_525+173del
NM_001318860.1:c.516+167_516+173del (DGUOK) NP_001305789.1:n.516+167_516+173del
NM_001318861.1:c.516+167_516+173del (DGUOK) NP_001305790.1:n.516+167_516+173del
NM_001318862.1:c.498+167_498+173del (DGUOK) NP_001305791.1:n.498+167_498+173del
NM_001318863.1:c.498+167_498+173del (DGUOK) NP_001305792.1:n.498+167_498+173del
NR_134893.1:n.515+167_515+173del (DGUOK)
NR_134894.1:n.663+167_663+173del (DGUOK)
NR_134895.1:n.327+167_327+173del (DGUOK)
NR_134896.1:n.497+167_497+173del (DGUOK)
NR_134897.1:n.707+167_707+173del (DGUOK)
NR_134898.1:n.631+167_631+173del (DGUOK)
XM_011532647.2:c.789+167_789+173del (DGUOK) XP_011530949.1:n.789+167_789+173del
XM_024452739.1:c.516+167_516+173del (DGUOK) XP_024308507.1:n.516+167_516+173del
XR_001738656.1:n.743+167_743+173del (DGUOK)
XR_244926.3:n.774+167_774+173del (DGUOK)
NM_080916.3:c.807+167_807+173del (DGUOK) MANE Select NP_550438.1:n.807+167_807+173del
NM_001318859.2:c.525+167_525+173del (DGUOK) NP_001305788.1:n.525+167_525+173del
NM_001318860.2:c.516+167_516+173del (DGUOK) NP_001305789.1:n.516+167_516+173del
NM_001318861.2:c.516+167_516+173del (DGUOK) NP_001305790.1:n.516+167_516+173del
NM_001318862.2:c.498+167_498+173del (DGUOK) NP_001305791.1:n.498+167_498+173del
NM_001318863.2:c.498+167_498+173del (DGUOK) NP_001305792.1:n.498+167_498+173del
NM_080918.3:c.543+167_543+173del (DGUOK) NP_550440.1:n.543+167_543+173del
NR_134893.2:n.461+167_461+173del (DGUOK)
NR_134894.2:n.609+167_609+173del (DGUOK)
NR_134895.2:n.273+167_273+173del (DGUOK)
NR_134896.2:n.443+167_443+173del (DGUOK)
NR_134897.2:n.653+167_653+173del (DGUOK)
NR_134898.2:n.577+167_577+173del (DGUOK)