Canonical Allele Identifier: CA2669482133
Gene: DGKQ HGNC NCBI

Linked Data

gnomAD v4: 4-971029-CCT-C

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.971031_971032del , CM000666.2:g.971031_971032del GRCh38
NC_000004.11:g.964819_964820del , CM000666.1:g.964819_964820del GRCh37
NC_000004.10:g.954819_954820del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273814.8:c.313_314del MANE Select ENSP00000273814.3:p.Arg105AspfsTer?
ENST00000273814.7:c.313_314del ENSP00000273814.3:p.Arg105AspfsTer?
ENST00000509465.5:c.153_154del
ENST00000510286.1:c.88_89del ENSP00000427268.1:p.Arg30AspfsTer?
NM_001347.3:c.313_314del NP_001338.2:p.Arg105AspfsTer?
XM_011513411.1:c.313_314del XP_011511713.1:p.Arg105AspfsTer?
XM_011513412.1:c.313_314del XP_011511714.1:p.Arg105AspfsTer?
XM_011513413.1:c.313_314del XP_011511715.1:p.Arg105AspfsTer?
XM_011513414.1:c.313_314del XP_011511716.1:p.Arg105AspfsTer?
XM_011513415.1:c.313_314del XP_011511717.1:p.Arg105AspfsTer?
XM_011513414.2:c.313_314del XP_011511716.1:p.Arg105AspfsTer?
XM_017007814.1:c.313_314del XP_016863303.1:p.Arg105AspfsTer?
XM_017007815.1:c.313_314del XP_016863304.1:p.Arg105AspfsTer?
XR_002959715.1:n.376_377del
NM_001347.4:c.313_314del MANE Select NP_001338.2:p.Arg105AspfsTer?