Canonical Allele Identifier: CA332173
Gene: DGKE HGNC NCBI
TRIM25 HGNC NCBI

Linked Data

ClinVar Variation Id: 135639
ClinVar RCV Id: RCV000043568 RCV000122614
dbSNP Id: rs312262699
MyVariant Identifiers: chr17:g.54921401dupA (hg19) chr17:g.56844040dupA (hg38)
PubMed: PMID:23542698 PMID:24747643
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56844040dup , CM000679.2:g.56844040dup GRCh38
NC_000017.10:g.54921401dup , CM000679.1:g.54921401dup GRCh37
NC_000017.9:g.52276400dup NCBI36
NG_033888.1:g.14942dup

Transcript Alleles

HGVS Amino-acid change
ENST00000284061.8:c.486dup (DGKE) MANE Select ENSP00000284061.3:p.Val163SerfsTer3
ENST00000648772.1:c.*314-250dup (TRIM25) ENSP00000498158.1:n.*314-250dup
ENST00000284061.7:c.486dup (DGKE) ENSP00000284061.3:p.Val163SerfsTer3
ENST00000571084.1:n.22dup (DGKE)
ENST00000572944.1:c.316dup (DGKE)
ENST00000576869.5:n.634dup (DGKE)
NM_003647.2:c.486dup (DGKE) NP_003638.1:p.Val163SerfsTer3
XM_011525394.1:c.540dup (DGKE) XP_011523696.1:p.Val181SerfsTer3
XM_011525395.1:c.540dup (DGKE) XP_011523697.1:p.Val181SerfsTer3
XM_011525396.1:c.540dup (DGKE) XP_011523698.1:p.Val181SerfsTer3
XM_011525397.1:c.540dup (DGKE) XP_011523699.1:p.Val181SerfsTer3
XM_011525398.1:c.30dup (DGKE) XP_011523700.1:p.Val11SerfsTer3
XR_934581.1:n.639dup (DGKE)
XM_011525394.3:c.540dup (DGKE) XP_011523696.1:p.Val181SerfsTer3
XM_011525395.2:c.540dup (DGKE) XP_011523697.1:p.Val181SerfsTer3
XM_011525396.2:c.540dup (DGKE) XP_011523698.1:p.Val181SerfsTer3
XM_017025243.2:c.486dup (DGKE) XP_016880732.1:p.Val163SerfsTer3
XM_017025244.2:c.540dup (DGKE) XP_016880733.1:p.Val181SerfsTer3
XR_001752670.2:n.672dup (DGKE)
XR_001752671.1:n.651dup (DGKE)
XR_001752672.1:n.652dup (DGKE)
XR_002958079.1:n.650dup (DGKE)
NM_003647.3:c.486dup (DGKE) MANE Select NP_003638.1:p.Val163SerfsTer3
Search 100 bp 5'
Search 100 bp 3'