Canonical Allele Identifier: CA800427853
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs1186277097
gnomAD v3: 4-970579-AC-A
gnomAD v4: 4-970579-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.970584del , CM000666.2:g.970584del GRCh38
NC_000004.11:g.964372del , CM000666.1:g.964372del GRCh37
NC_000004.10:g.954372del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000273814.8:c.351+413del MANE Select ENSP00000273814.3:n.351+413del
ENST00000273814.7:c.351+413del ENSP00000273814.3:n.351+413del
ENST00000509465.5:c.191+413del
ENST00000510286.1:c.126+413del ENSP00000427268.1:n.126+413del
NM_001347.3:c.351+413del NP_001338.2:n.351+413del
XM_011513411.1:c.351+413del XP_011511713.1:n.351+413del
XM_011513412.1:c.351+413del XP_011511714.1:n.351+413del
XM_011513413.1:c.351+413del XP_011511715.1:n.351+413del
XM_011513414.1:c.351+413del XP_011511716.1:n.351+413del
XM_011513415.1:c.351+413del XP_011511717.1:n.351+413del
XM_011513414.2:c.351+413del XP_011511716.1:n.351+413del
XM_017007814.1:c.351+413del XP_016863303.1:n.351+413del
XM_017007815.1:c.351+413del XP_016863304.1:n.351+413del
XR_002959715.1:n.414+413del
NM_001347.4:c.351+413del MANE Select NP_001338.2:n.351+413del