Canonical Allele Identifier: CA3007610861
Community Standard Title: NM_080916.3(DGUOK):c.143-94dup
Gene: DGUOK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.73938816dup , CM000664.2:g.73938816dup GRCh38
NC_000002.11:g.74165943dup , CM000664.1:g.74165943dup GRCh37
NC_000002.10:g.74019451dup NCBI36
NG_008044.1:g.16991dup

Transcript Alleles

HGVS Amino-acid Change
NM_080916.3:c.143-94dup MANE Select NP_550438.1:n.143-94dup
ENST00000264093.9:c.143-94dup MANE Select ENSP00000264093.4:n.143-94dup
NM_001318859.1:c.143-94dup NP_001305788.1:n.143-94dup
NM_001318859.2:c.143-94dup NP_001305788.1:n.143-94dup
NM_001318860.1:c.-36-7903dup NP_001305789.1:n.-36-7903dup
NM_001318860.2:c.-36-7903dup NP_001305789.1:n.-36-7903dup
NM_001318861.1:c.-37+6133dup NP_001305790.1:n.-37+6133dup
NM_001318861.2:c.-37+6133dup NP_001305790.1:n.-37+6133dup
NM_001318862.1:c.-37+6133dup NP_001305791.1:n.-37+6133dup
NM_001318862.2:c.-37+6133dup NP_001305791.1:n.-37+6133dup
NM_001318863.1:c.-36-7903dup NP_001305792.1:n.-36-7903dup
NM_001318863.2:c.-36-7903dup NP_001305792.1:n.-36-7903dup
NM_080916.2:c.143-94dup NP_550438.1:n.143-94dup
NM_080918.2:c.143-94dup NP_550440.1:n.143-94dup
NM_080918.3:c.143-94dup NP_550440.1:n.143-94dup
NR_134893.1:n.228-7903dup
NR_134893.2:n.174-7903dup
NR_134894.1:n.228-7903dup
NR_134894.2:n.174-7903dup
NR_134895.1:n.227+11764dup
NR_134895.2:n.173+11764dup
NR_134896.1:n.228-7903dup
NR_134896.2:n.174-7903dup
NR_134897.1:n.313+6133dup
NR_134897.2:n.259+6133dup
NR_134898.1:n.228-7903dup
NR_134898.2:n.174-7903dup
ENST00000264093.8:c.143-94dup ENSP00000264093.4:n.143-94dup
ENST00000348222.3:c.143-94dup ENSP00000306964.3:n.143-94dup
ENST00000418996.5:c.143-7903dup ENSP00000408209.1:n.143-7903dup
ENST00000462551.1:n.161-7903dup
ENST00000462685.1:n.242+6133dup
ENST00000489796.5:n.160-94dup
ENST00000493055.1:n.146-94dup
ENST00000629438.2:c.143-7903dup ENSP00000487122.1:n.143-7903dup
XM_005264173.2:c.-36-7903dup XP_005264230.1:n.-36-7903dup
XM_005264174.1:c.-37+6133dup XP_005264231.1:n.-37+6133dup
XM_011532647.1:c.143-94dup XP_011530949.1:n.143-94dup
XM_011532647.2:c.143-94dup XP_011530949.1:n.143-94dup
XM_011532648.1:c.-37+6133dup XP_011530950.1:n.-37+6133dup
XM_024452739.1:c.-149-94dup XP_024308507.1:n.-149-94dup
XR_001738656.1:n.227-94dup
XR_244926.2:n.224-94dup
XR_244926.3:n.226-94dup