Canonical Allele Identifier: CA332172

Linked Data

ClinVar Variation Id: 135638
ClinVar RCV Id: RCV000122613
dbSNP Id: rs312262698

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56844026dup , CM000679.2:g.56844026dup GRCh38
NC_000017.10:g.54921387dup , CM000679.1:g.54921387dup GRCh37
NC_000017.9:g.52276386dup NCBI36
NG_033888.1:g.14928dup

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.472dup (DGKE) MANE Select ENSP00000284061.3:p.Trp158LeufsTer8
ENST00000648772.1:c.*314-234dup (TRIM25) ENSP00000498158.1:n.*314-234dup
ENST00000284061.7:c.472dup (DGKE) ENSP00000284061.3:p.Trp158LeufsTer8
ENST00000571084.1:n.8dup (DGKE)
ENST00000572944.1:c.302dup (DGKE)
ENST00000576869.5:n.620dup (DGKE)
NM_003647.2:c.472dup (DGKE) NP_003638.1:p.Trp158LeufsTer8
XM_011525394.1:c.526dup (DGKE) XP_011523696.1:p.Trp176LeufsTer8
XM_011525395.1:c.526dup (DGKE) XP_011523697.1:p.Trp176LeufsTer8
XM_011525396.1:c.526dup (DGKE) XP_011523698.1:p.Trp176LeufsTer8
XM_011525397.1:c.526dup (DGKE) XP_011523699.1:p.Trp176LeufsTer8
XM_011525398.1:c.16dup (DGKE) XP_011523700.1:p.Trp6LeufsTer8
XR_934581.1:n.625dup (DGKE)
XM_011525394.3:c.526dup (DGKE) XP_011523696.1:p.Trp176LeufsTer8
XM_011525395.2:c.526dup (DGKE) XP_011523697.1:p.Trp176LeufsTer8
XM_011525396.2:c.526dup (DGKE) XP_011523698.1:p.Trp176LeufsTer8
XM_017025243.2:c.472dup (DGKE) XP_016880732.1:p.Trp158LeufsTer8
XM_017025244.2:c.526dup (DGKE) XP_016880733.1:p.Trp176LeufsTer8
XR_001752670.2:n.658dup (DGKE)
XR_001752671.1:n.637dup (DGKE)
XR_001752672.1:n.638dup (DGKE)
XR_002958079.1:n.636dup (DGKE)
NM_003647.3:c.472dup (DGKE) MANE Select NP_003638.1:p.Trp158LeufsTer8