Canonical Allele Identifier: CA549144468
Gene: DGKQ HGNC NCBI

Linked Data

dbSNP Id: rs1472194228
gnomAD v2: 4-964394-T-TA
gnomAD v3: 4-970606-T-TA
gnomAD v4: 4-970606-T-TA

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.970608dup , CM000666.2:g.970608dup GRCh38
NC_000004.11:g.964396dup , CM000666.1:g.964396dup GRCh37
NC_000004.10:g.954396dup NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000273814.8:c.351+386dup MANE Select ENSP00000273814.3:n.351+386dup
ENST00000273814.7:c.351+386dup ENSP00000273814.3:n.351+386dup
ENST00000509465.5:c.191+386dup
ENST00000510286.1:c.126+386dup ENSP00000427268.1:n.126+386dup
NM_001347.3:c.351+386dup NP_001338.2:n.351+386dup
XM_011513411.1:c.351+386dup XP_011511713.1:n.351+386dup
XM_011513412.1:c.351+386dup XP_011511714.1:n.351+386dup
XM_011513413.1:c.351+386dup XP_011511715.1:n.351+386dup
XM_011513414.1:c.351+386dup XP_011511716.1:n.351+386dup
XM_011513415.1:c.351+386dup XP_011511717.1:n.351+386dup
XM_011513414.2:c.351+386dup XP_011511716.1:n.351+386dup
XM_017007814.1:c.351+386dup XP_016863303.1:n.351+386dup
XM_017007815.1:c.351+386dup XP_016863304.1:n.351+386dup
XR_002959715.1:n.414+386dup
NM_001347.4:c.351+386dup MANE Select NP_001338.2:n.351+386dup