Canonical Allele Identifier: CA2087203896

Gene: DGKH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42180467_42180468delinsAG , CM000675.2:g.42180467_42180468delinsAG	GRCh38
NC_000013.10:g.42754603_42754604delinsAG , CM000675.1:g.42754603_42754604delinsAG	GRCh37
NC_000013.9:g.41652603_41652604delinsAG	NCBI36
NG_029191.2:g.145432_145433delinsAG
NG_029191.3:g.145432_145433delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.1538+2247_1538+2248delinsAG MANE Select	ENSP00000337572.4:n.1538+2247_1538+2248delinsAG
ENST00000261491.9:c.1538+2247_1538+2248delinsAG	ENSP00000261491.4:n.1538+2247_1538+2248delinsAG
ENST00000337343.8:c.1538+2247_1538+2248delinsAG	ENSP00000337572.4:n.1538+2247_1538+2248delinsAG
ENST00000379274.6:c.1538+2247_1538+2248delinsAG	ENSP00000368576.3:n.1538+2247_1538+2248delinsAG
ENST00000498255.6:n.1769+2247_1769+2248delinsAG
ENST00000536612.3:c.1130+2247_1130+2248delinsAG	ENSP00000445114.2:n.1130+2247_1130+2248delinsAG
ENST00000626247.2:c.*627+2247_*627+2248delinsAG	ENSP00000486329.1:n.*627+2247_*627+2248delinsAG
ENST00000627777.2:c.1130+2247_1130+2248delinsAG	ENSP00000486838.1:n.1130+2247_1130+2248delinsAG
ENST00000628433.2:c.1130+2247_1130+2248delinsAG	ENSP00000485809.1:n.1130+2247_1130+2248delinsAG
NM_001204504.2:c.1538+2247_1538+2248delinsAG	NP_001191433.1:n.1538+2247_1538+2248delinsAG
NM_001204505.2:c.1130+2247_1130+2248delinsAG	NP_001191434.1:n.1130+2247_1130+2248delinsAG
NM_001204506.2:c.1130+2247_1130+2248delinsAG	NP_001191435.1:n.1130+2247_1130+2248delinsAG
NM_001297429.1:c.803+2247_803+2248delinsAG	NP_001284358.1:n.803+2247_803+2248delinsAG
NM_152910.5:c.1538+2247_1538+2248delinsAG	NP_690874.2:n.1538+2247_1538+2248delinsAG
NM_178009.4:c.1538+2247_1538+2248delinsAG	NP_821077.1:n.1538+2247_1538+2248delinsAG
NR_123714.1:n.1262+2247_1262+2248delinsAG
NR_123715.1:n.1875+2247_1875+2248delinsAG
NM_001204505.3:c.1130+2247_1130+2248delinsAG	NP_001191434.1:n.1130+2247_1130+2248delinsAG
NM_001204506.3:c.1130+2247_1130+2248delinsAG	NP_001191435.1:n.1130+2247_1130+2248delinsAG
NM_001297429.2:c.803+2247_803+2248delinsAG	NP_001284358.1:n.803+2247_803+2248delinsAG
NM_152910.6:c.1538+2247_1538+2248delinsAG	NP_690874.2:n.1538+2247_1538+2248delinsAG
NM_178009.5:c.1538+2247_1538+2248delinsAG MANE Select	NP_821077.1:n.1538+2247_1538+2248delinsAG
NR_123714.2:n.1246+2247_1246+2248delinsAG
NR_123715.2:n.1859+2247_1859+2248delinsAG
NM_001204504.3:c.1538+2247_1538+2248delinsAG	NP_001191433.1:n.1538+2247_1538+2248delinsAG