Canonical Allele Identifier: CA8663537

Gene: DGKE TRIM25

Linked Data

• ClinVar Variation Id: 635454
• ClinVar RCV Id: RCV002294380 ; RCV003558591
• dbSNP Id: rs147972030
• ExAC: 17:54921518 C / CA
• gnomAD v2: 17-54921518-C-CA
• gnomAD v3: 17-56844157-C-CA
• gnomAD v4: 17-56844157-C-CA
• MyVariant Identifiers: chr17:g.54921519_54921520insA (hg19) ; chr17:g.54921518_54921519insA (hg19) ; chr17:g.56844157_56844158insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.56844164dup , CM000679.2:g.56844164dup	GRCh38
NC_000017.10:g.54921525dup , CM000679.1:g.54921525dup	GRCh37
NC_000017.9:g.52276524dup	NCBI36
NG_033888.1:g.15066dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000284061.8:c.610dup (DGKE) MANE Select	ENSP00000284061.3:p.Thr204AsnfsTer4
ENST00000648772.1:c.*314-368dup (TRIM25)	ENSP00000498158.1:n.*314-368dup
ENST00000284061.7:c.610dup (DGKE)	ENSP00000284061.3:p.Thr204AsnfsTer4
ENST00000571084.1:n.146dup (DGKE)
ENST00000572944.1:c.440dup (DGKE)
ENST00000576869.5:n.758dup (DGKE)
NM_003647.2:c.610dup (DGKE)	NP_003638.1:p.Thr204AsnfsTer4
XM_011525394.1:c.664dup (DGKE)	XP_011523696.1:p.Thr222AsnfsTer4
XM_011525395.1:c.664dup (DGKE)	XP_011523697.1:p.Thr222AsnfsTer4
XM_011525396.1:c.664dup (DGKE)	XP_011523698.1:p.Thr222AsnfsTer4
XM_011525397.1:c.664dup (DGKE)	XP_011523699.1:p.Thr222AsnfsTer4
XM_011525398.1:c.154dup (DGKE)	XP_011523700.1:p.Thr52AsnfsTer4
XR_934581.1:n.763dup (DGKE)
XM_011525394.3:c.664dup (DGKE)	XP_011523696.1:p.Thr222AsnfsTer4
XM_011525395.2:c.664dup (DGKE)	XP_011523697.1:p.Thr222AsnfsTer4
XM_011525396.2:c.664dup (DGKE)	XP_011523698.1:p.Thr222AsnfsTer4
XM_017025243.2:c.610dup (DGKE)	XP_016880732.1:p.Thr204AsnfsTer4
XM_017025244.2:c.664dup (DGKE)	XP_016880733.1:p.Thr222AsnfsTer4
XR_001752670.2:n.796dup (DGKE)
XR_001752671.1:n.775dup (DGKE)
XR_001752672.1:n.776dup (DGKE)
XR_002958079.1:n.774dup (DGKE)
NM_003647.3:c.610dup (DGKE) MANE Select	NP_003638.1:p.Thr204AsnfsTer4