Canonical Allele Identifier: CA955366924

Gene: DGKH

Linked Data

• gnomAD v3: 13-42160880-C-CT
• gnomAD v4: 13-42160880-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42160880_42160881insT , CM000675.2:g.42160880_42160881insT	GRCh38
NC_000013.10:g.42735016_42735017insT , CM000675.1:g.42735016_42735017insT	GRCh37
NC_000013.9:g.41633016_41633017insT	NCBI36
NG_029191.2:g.125845_125846insT
NG_029191.3:g.125845_125846insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.855+744_855+745insT MANE Select	ENSP00000337572.4:n.855+744_855+745insT
ENST00000261491.9:c.855+744_855+745insT	ENSP00000261491.4:n.855+744_855+745insT
ENST00000337343.8:c.855+744_855+745insT	ENSP00000337572.4:n.855+744_855+745insT
ENST00000379274.6:c.855+744_855+745insT	ENSP00000368576.3:n.855+744_855+745insT
ENST00000498255.6:n.1086+744_1086+745insT
ENST00000536612.3:c.447+744_447+745insT	ENSP00000445114.2:n.447+744_447+745insT
ENST00000626247.2:c.215-4451_215-4450insT	ENSP00000486329.1:n.215-4451_215-4450insT
ENST00000627777.2:c.447+744_447+745insT	ENSP00000486838.1:n.447+744_447+745insT
ENST00000628433.2:c.447+744_447+745insT	ENSP00000485809.1:n.447+744_447+745insT
NM_001204504.2:c.855+744_855+745insT	NP_001191433.1:n.855+744_855+745insT
NM_001204505.2:c.447+744_447+745insT	NP_001191434.1:n.447+744_447+745insT
NM_001204506.2:c.447+744_447+745insT	NP_001191435.1:n.447+744_447+745insT
NM_001297429.1:c.121-4451_121-4450insT	NP_001284358.1:n.121-4451_121-4450insT
NM_152910.5:c.855+744_855+745insT	NP_690874.2:n.855+744_855+745insT
NM_178009.4:c.855+744_855+745insT	NP_821077.1:n.855+744_855+745insT
NR_123714.1:n.579+744_579+745insT
NR_123715.1:n.1192+744_1192+745insT
NM_001204505.3:c.447+744_447+745insT	NP_001191434.1:n.447+744_447+745insT
NM_001204506.3:c.447+744_447+745insT	NP_001191435.1:n.447+744_447+745insT
NM_001297429.2:c.121-4451_121-4450insT	NP_001284358.1:n.121-4451_121-4450insT
NM_152910.6:c.855+744_855+745insT	NP_690874.2:n.855+744_855+745insT
NM_178009.5:c.855+744_855+745insT MANE Select	NP_821077.1:n.855+744_855+745insT
NR_123714.2:n.563+744_563+745insT
NR_123715.2:n.1176+744_1176+745insT
NM_001204504.3:c.855+744_855+745insT	NP_001191433.1:n.855+744_855+745insT