Canonical Allele Identifier: CA800428261

Gene: DGKQ

Linked Data

• dbSNP Id: rs1290958581
• gnomAD v3: 4-971023-CG-C
• gnomAD v4: 4-971023-CG-C
• MyVariant Identifiers: chr4:g.964812del (hg19) ; chr4:g.971024del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.971026del , CM000666.2:g.971026del	GRCh38
NC_000004.11:g.964814del , CM000666.1:g.964814del	GRCh37
NC_000004.10:g.954814del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273814.8:c.320del MANE Select	ENSP00000273814.3:p.Pro107ArgfsTer14
ENST00000273814.7:c.320del	ENSP00000273814.3:p.Pro107ArgfsTer14
ENST00000509465.5:c.160del
ENST00000510286.1:c.95del	ENSP00000427268.1:p.Pro32ArgfsTer14
NM_001347.3:c.320del	NP_001338.2:p.Pro107ArgfsTer14
XM_011513411.1:c.320del	XP_011511713.1:p.Pro107ArgfsTer14
XM_011513412.1:c.320del	XP_011511714.1:p.Pro107ArgfsTer14
XM_011513413.1:c.320del	XP_011511715.1:p.Pro107ArgfsTer14
XM_011513414.1:c.320del	XP_011511716.1:p.Pro107ArgfsTer14
XM_011513415.1:c.320del	XP_011511717.1:p.Pro107ArgfsTer14
XM_011513414.2:c.320del	XP_011511716.1:p.Pro107ArgfsTer14
XM_017007814.1:c.320del	XP_016863303.1:p.Pro107ArgfsTer14
XM_017007815.1:c.320del	XP_016863304.1:p.Pro107ArgfsTer14
XR_002959715.1:n.383del
NM_001347.4:c.320del MANE Select	NP_001338.2:p.Pro107ArgfsTer14