Canonical Allele Identifier: CA16621525

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 424621
• ClinVar RCV Id: RCV000487442
• dbSNP Id: rs1064797074
• MyVariant Identifiers: chr17:g.54923154_54923157del (hg19) ; chr17:g.56845793_56845796del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56845793_56845796del , CM000679.2:g.56845793_56845796del	GRCh38
NC_000017.10:g.54923154_54923157del , CM000679.1:g.54923154_54923157del	GRCh37
NC_000017.9:g.52278153_52278156del	NCBI36
NG_033888.1:g.16695_16698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284061.8:c.728_731del (DGKE) MANE Select	ENSP00000284061.3:p.Leu243Ter
ENST00000648772.1:c.*314-2005_*314-2002del (TRIM25)	ENSP00000498158.1:n.*314-2005_*314-2002del
ENST00000284061.7:c.728_731del (DGKE)	ENSP00000284061.3:p.Leu243Ter
ENST00000571084.1:n.264_267del (DGKE)
ENST00000572944.1:c.558_561del (DGKE)
ENST00000576869.5:n.876_879del (DGKE)
NM_003647.2:c.728_731del (DGKE)	NP_003638.1:p.Leu243Ter
XM_011525394.1:c.782_785del (DGKE)	XP_011523696.1:p.Leu261Ter
XM_011525395.1:c.782_785del (DGKE)	XP_011523697.1:p.Leu261Ter
XM_011525396.1:c.782_785del (DGKE)	XP_011523698.1:p.Leu261Ter
XM_011525397.1:c.782_785del (DGKE)	XP_011523699.1:p.Leu261Ter
XM_011525398.1:c.272_275del (DGKE)	XP_011523700.1:p.Leu91Ter
XR_934581.1:n.881_884del (DGKE)
XM_011525394.3:c.782_785del (DGKE)	XP_011523696.1:p.Leu261Ter
XM_011525395.2:c.782_785del (DGKE)	XP_011523697.1:p.Leu261Ter
XM_011525396.2:c.782_785del (DGKE)	XP_011523698.1:p.Leu261Ter
XM_017025243.2:c.728_731del (DGKE)	XP_016880732.1:p.Leu243Ter
XM_017025244.2:c.782_785del (DGKE)	XP_016880733.1:p.Leu261Ter
XR_001752670.2:n.914_917del (DGKE)
XR_001752671.1:n.893_896del (DGKE)
XR_001752672.1:n.894_897del (DGKE)
XR_002958079.1:n.892_895del (DGKE)
NM_003647.3:c.728_731del (DGKE) MANE Select	NP_003638.1:p.Leu243Ter