Canonical Allele Identifier: CA2087195629
Gene: DGKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42160851_42160853delinsCTA , CM000675.2:g.42160851_42160853delinsCTA GRCh38
NC_000013.10:g.42734987_42734989delinsCTA , CM000675.1:g.42734987_42734989delinsCTA GRCh37
NC_000013.9:g.41632987_41632989delinsCTA NCBI36
NG_029191.2:g.125816_125818delinsCTA
NG_029191.3:g.125816_125818delinsCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000337343.9:c.855+715_855+717delinsCTA MANE Select ENSP00000337572.4:n.855+715_855+717delinsCTA
ENST00000261491.9:c.855+715_855+717delinsCTA ENSP00000261491.4:n.855+715_855+717delinsCTA
ENST00000337343.8:c.855+715_855+717delinsCTA ENSP00000337572.4:n.855+715_855+717delinsCTA
ENST00000379274.6:c.855+715_855+717delinsCTA ENSP00000368576.3:n.855+715_855+717delinsCTA
ENST00000498255.6:n.1086+715_1086+717delinsCTA
ENST00000536612.3:c.447+715_447+717delinsCTA ENSP00000445114.2:n.447+715_447+717delinsCTA
ENST00000626247.2:c.215-4480_215-4478delinsCTA ENSP00000486329.1:n.215-4480_215-4478delinsCTA
ENST00000627777.2:c.447+715_447+717delinsCTA ENSP00000486838.1:n.447+715_447+717delinsCTA
ENST00000628433.2:c.447+715_447+717delinsCTA ENSP00000485809.1:n.447+715_447+717delinsCTA
NM_001204504.2:c.855+715_855+717delinsCTA NP_001191433.1:n.855+715_855+717delinsCTA
NM_001204505.2:c.447+715_447+717delinsCTA NP_001191434.1:n.447+715_447+717delinsCTA
NM_001204506.2:c.447+715_447+717delinsCTA NP_001191435.1:n.447+715_447+717delinsCTA
NM_001297429.1:c.121-4480_121-4478delinsCTA NP_001284358.1:n.121-4480_121-4478delinsCTA
NM_152910.5:c.855+715_855+717delinsCTA NP_690874.2:n.855+715_855+717delinsCTA
NM_178009.4:c.855+715_855+717delinsCTA NP_821077.1:n.855+715_855+717delinsCTA
NR_123714.1:n.579+715_579+717delinsCTA
NR_123715.1:n.1192+715_1192+717delinsCTA
NM_001204505.3:c.447+715_447+717delinsCTA NP_001191434.1:n.447+715_447+717delinsCTA
NM_001204506.3:c.447+715_447+717delinsCTA NP_001191435.1:n.447+715_447+717delinsCTA
NM_001297429.2:c.121-4480_121-4478delinsCTA NP_001284358.1:n.121-4480_121-4478delinsCTA
NM_152910.6:c.855+715_855+717delinsCTA NP_690874.2:n.855+715_855+717delinsCTA
NM_178009.5:c.855+715_855+717delinsCTA MANE Select NP_821077.1:n.855+715_855+717delinsCTA
NR_123714.2:n.563+715_563+717delinsCTA
NR_123715.2:n.1176+715_1176+717delinsCTA
NM_001204504.3:c.855+715_855+717delinsCTA NP_001191433.1:n.855+715_855+717delinsCTA