Canonical Allele Identifier: CA2516445021

Gene: DGKH

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42180365_42180366insAT , CM000675.2:g.42180365_42180366insAT	GRCh38
NC_000013.10:g.42754501_42754502insAT , CM000675.1:g.42754501_42754502insAT	GRCh37
NC_000013.9:g.41652501_41652502insAT	NCBI36
NG_029191.2:g.145330_145331insAT
NG_029191.3:g.145330_145331insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.1538+2145_1538+2146insAT MANE Select	ENSP00000337572.4:n.1538+2145_1538+2146insAT
ENST00000261491.9:c.1538+2145_1538+2146insAT	ENSP00000261491.4:n.1538+2145_1538+2146insAT
ENST00000337343.8:c.1538+2145_1538+2146insAT	ENSP00000337572.4:n.1538+2145_1538+2146insAT
ENST00000379274.6:c.1538+2145_1538+2146insAT	ENSP00000368576.3:n.1538+2145_1538+2146insAT
ENST00000498255.6:n.1769+2145_1769+2146insAT
ENST00000536612.3:c.1130+2145_1130+2146insAT	ENSP00000445114.2:n.1130+2145_1130+2146insAT
ENST00000626247.2:c.*627+2145_*627+2146insAT	ENSP00000486329.1:n.*627+2145_*627+2146insAT
ENST00000627777.2:c.1130+2145_1130+2146insAT	ENSP00000486838.1:n.1130+2145_1130+2146insAT
ENST00000628433.2:c.1130+2145_1130+2146insAT	ENSP00000485809.1:n.1130+2145_1130+2146insAT
NM_001204504.2:c.1538+2145_1538+2146insAT	NP_001191433.1:n.1538+2145_1538+2146insAT
NM_001204505.2:c.1130+2145_1130+2146insAT	NP_001191434.1:n.1130+2145_1130+2146insAT
NM_001204506.2:c.1130+2145_1130+2146insAT	NP_001191435.1:n.1130+2145_1130+2146insAT
NM_001297429.1:c.803+2145_803+2146insAT	NP_001284358.1:n.803+2145_803+2146insAT
NM_152910.5:c.1538+2145_1538+2146insAT	NP_690874.2:n.1538+2145_1538+2146insAT
NM_178009.4:c.1538+2145_1538+2146insAT	NP_821077.1:n.1538+2145_1538+2146insAT
NR_123714.1:n.1262+2145_1262+2146insAT
NR_123715.1:n.1875+2145_1875+2146insAT
NM_001204505.3:c.1130+2145_1130+2146insAT	NP_001191434.1:n.1130+2145_1130+2146insAT
NM_001204506.3:c.1130+2145_1130+2146insAT	NP_001191435.1:n.1130+2145_1130+2146insAT
NM_001297429.2:c.803+2145_803+2146insAT	NP_001284358.1:n.803+2145_803+2146insAT
NM_152910.6:c.1538+2145_1538+2146insAT	NP_690874.2:n.1538+2145_1538+2146insAT
NM_178009.5:c.1538+2145_1538+2146insAT MANE Select	NP_821077.1:n.1538+2145_1538+2146insAT
NR_123714.2:n.1246+2145_1246+2146insAT
NR_123715.2:n.1859+2145_1859+2146insAT
NM_001204504.3:c.1538+2145_1538+2146insAT	NP_001191433.1:n.1538+2145_1538+2146insAT