Canonical Allele Identifier: CA2087203814
Gene: DGKH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42180306_42180315delinsACCCCAGTGG , CM000675.2:g.42180306_42180315delinsACCCCAGTGG GRCh38
NC_000013.10:g.42754442_42754451delinsACCCCAGTGG , CM000675.1:g.42754442_42754451delinsACCCCAGTGG GRCh37
NC_000013.9:g.41652442_41652451delinsACCCCAGTGG NCBI36
NG_029191.2:g.145271_145280delinsACCCCAGTGG
NG_029191.3:g.145271_145280delinsACCCCAGTGG

Transcript Alleles

HGVS Amino-acid change
ENST00000337343.9:c.1538+2086_1538+2095delinsACCCCAGTGG MANE Select ENSP00000337572.4:n.1538+2086_1538+2095de...
ENST00000261491.9:c.1538+2086_1538+2095delinsACCCCAGTGG ENSP00000261491.4:n.1538+2086_1538+2095de...
ENST00000337343.8:c.1538+2086_1538+2095delinsACCCCAGTGG ENSP00000337572.4:n.1538+2086_1538+2095de...
ENST00000379274.6:c.1538+2086_1538+2095delinsACCCCAGTGG ENSP00000368576.3:n.1538+2086_1538+2095de...
ENST00000498255.6:n.1769+2086_1769+2095delinsACCCCAGTGG
ENST00000536612.3:c.1130+2086_1130+2095delinsACCCCAGTGG ENSP00000445114.2:n.1130+2086_1130+2095de...
ENST00000626247.2:c.*627+2086_*627+2095delinsACCCCAGTGG ENSP00000486329.1:n.*627+2086_*627+2095de...
ENST00000627777.2:c.1130+2086_1130+2095delinsACCCCAGTGG ENSP00000486838.1:n.1130+2086_1130+2095de...
ENST00000628433.2:c.1130+2086_1130+2095delinsACCCCAGTGG ENSP00000485809.1:n.1130+2086_1130+2095de...
NM_001204504.2:c.1538+2086_1538+2095delinsACCCCAGTGG NP_001191433.1:n.1538+2086_1538+2095delin...
NM_001204505.2:c.1130+2086_1130+2095delinsACCCCAGTGG NP_001191434.1:n.1130+2086_1130+2095delin...
NM_001204506.2:c.1130+2086_1130+2095delinsACCCCAGTGG NP_001191435.1:n.1130+2086_1130+2095delin...
NM_001297429.1:c.803+2086_803+2095delinsACCCCAGTGG NP_001284358.1:n.803+2086_803+2095delinsA...
NM_152910.5:c.1538+2086_1538+2095delinsACCCCAGTGG NP_690874.2:n.1538+2086_1538+2095delinsAC...
NM_178009.4:c.1538+2086_1538+2095delinsACCCCAGTGG NP_821077.1:n.1538+2086_1538+2095delinsAC...
NR_123714.1:n.1262+2086_1262+2095delinsACCCCAGTGG
NR_123715.1:n.1875+2086_1875+2095delinsACCCCAGTGG
NM_001204505.3:c.1130+2086_1130+2095delinsACCCCAGTGG NP_001191434.1:n.1130+2086_1130+2095delin...
NM_001204506.3:c.1130+2086_1130+2095delinsACCCCAGTGG NP_001191435.1:n.1130+2086_1130+2095delin...
NM_001297429.2:c.803+2086_803+2095delinsACCCCAGTGG NP_001284358.1:n.803+2086_803+2095delinsA...
NM_152910.6:c.1538+2086_1538+2095delinsACCCCAGTGG NP_690874.2:n.1538+2086_1538+2095delinsAC...
NM_178009.5:c.1538+2086_1538+2095delinsACCCCAGTGG MANE Select NP_821077.1:n.1538+2086_1538+2095delinsAC...
NR_123714.2:n.1246+2086_1246+2095delinsACCCCAGTGG
NR_123715.2:n.1859+2086_1859+2095delinsACCCCAGTGG
NM_001204504.3:c.1538+2086_1538+2095delinsACCCCAGTGG NP_001191433.1:n.1538+2086_1538+2095delin...