Canonical Allele Identifier: CA2592146709

Gene: DGKH

Linked Data

• dbSNP Id: rs2137658284
• gnomAD v3: 13-42057691-AG-A
• gnomAD v4: 13-42057691-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42057692del , CM000675.2:g.42057692del	GRCh38
NC_000013.10:g.42631828del , CM000675.1:g.42631828del	GRCh37
NC_000013.9:g.41529828del	NCBI36
NG_029191.2:g.22657del
NG_029191.3:g.22657del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.192+8727del MANE Select	ENSP00000337572.4:n.192+8727del
ENST00000261491.9:c.192+8727del	ENSP00000261491.4:n.192+8727del
ENST00000337343.8:c.192+8727del	ENSP00000337572.4:n.192+8727del
ENST00000379274.6:c.192+8727del	ENSP00000368576.3:n.192+8727del
ENST00000611224.1:c.145-8399del	ENSP00000482250.1:n.145-8399del
NM_001204504.2:c.192+8727del	NP_001191433.1:n.192+8727del
NM_152910.5:c.192+8727del	NP_690874.2:n.192+8727del
NM_178009.4:c.192+8727del	NP_821077.1:n.192+8727del
NM_152910.6:c.192+8727del	NP_690874.2:n.192+8727del
NM_178009.5:c.192+8727del MANE Select	NP_821077.1:n.192+8727del
NM_001204504.3:c.192+8727del	NP_001191433.1:n.192+8727del