Canonical Allele Identifier: CA2087152109
Gene: DGKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42057493_42057496delinsTATA , CM000675.2:g.42057493_42057496delinsTATA GRCh38
NC_000013.10:g.42631629_42631632delinsTATA , CM000675.1:g.42631629_42631632delinsTATA GRCh37
NC_000013.9:g.41529629_41529632delinsTATA NCBI36
NG_029191.2:g.22458_22461delinsTATA
NG_029191.3:g.22458_22461delinsTATA

Transcript Alleles

HGVS Amino-acid Change
ENST00000337343.9:c.192+8528_192+8531delinsTATA MANE Select ENSP00000337572.4:n.192+8528_192+8531delinsTATA
ENST00000261491.9:c.192+8528_192+8531delinsTATA ENSP00000261491.4:n.192+8528_192+8531delinsTATA
ENST00000337343.8:c.192+8528_192+8531delinsTATA ENSP00000337572.4:n.192+8528_192+8531delinsTATA
ENST00000379274.6:c.192+8528_192+8531delinsTATA ENSP00000368576.3:n.192+8528_192+8531delinsTATA
ENST00000611224.1:c.144+8528_144+8531delinsTATA ENSP00000482250.1:n.144+8528_144+8531delinsTATA
NM_001204504.2:c.192+8528_192+8531delinsTATA NP_001191433.1:n.192+8528_192+8531delinsTATA
NM_152910.5:c.192+8528_192+8531delinsTATA NP_690874.2:n.192+8528_192+8531delinsTATA
NM_178009.4:c.192+8528_192+8531delinsTATA NP_821077.1:n.192+8528_192+8531delinsTATA
NM_152910.6:c.192+8528_192+8531delinsTATA NP_690874.2:n.192+8528_192+8531delinsTATA
NM_178009.5:c.192+8528_192+8531delinsTATA MANE Select NP_821077.1:n.192+8528_192+8531delinsTATA
NM_001204504.3:c.192+8528_192+8531delinsTATA NP_001191433.1:n.192+8528_192+8531delinsTATA