Canonical Allele Identifier: CA248507608

Gene: DGKH

Linked Data

• dbSNP Id: rs954743901
• gnomAD v2: 13-42631914-CG-C
• gnomAD v3: 13-42057778-CG-C
• gnomAD v4: 13-42057778-CG-C
• MyVariant Identifiers: chr13:g.42631915del (hg19) ; chr13:g.42057779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.42057779del , CM000675.2:g.42057779del	GRCh38
NC_000013.10:g.42631915del , CM000675.1:g.42631915del	GRCh37
NC_000013.9:g.41529915del	NCBI36
NG_029191.2:g.22744del
NG_029191.3:g.22744del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337343.9:c.192+8814del MANE Select	ENSP00000337572.4:n.192+8814del
ENST00000261491.9:c.192+8814del	ENSP00000261491.4:n.192+8814del
ENST00000337343.8:c.192+8814del	ENSP00000337572.4:n.192+8814del
ENST00000379274.6:c.192+8814del	ENSP00000368576.3:n.192+8814del
ENST00000611224.1:c.145-8312del	ENSP00000482250.1:n.145-8312del
NM_001204504.2:c.192+8814del	NP_001191433.1:n.192+8814del
NM_152910.5:c.192+8814del	NP_690874.2:n.192+8814del
NM_178009.4:c.192+8814del	NP_821077.1:n.192+8814del
NM_152910.6:c.192+8814del	NP_690874.2:n.192+8814del
NM_178009.5:c.192+8814del MANE Select	NP_821077.1:n.192+8814del
NM_001204504.3:c.192+8814del	NP_001191433.1:n.192+8814del