Canonical Allele Identifier: CA2087152103
Gene: DGKH HGNC NCBI

Linked Data

dbSNP Id: rs1881849734

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42057482_42057485del , CM000675.2:g.42057482_42057485del GRCh38
NC_000013.10:g.42631618_42631621del , CM000675.1:g.42631618_42631621del GRCh37
NC_000013.9:g.41529618_41529621del NCBI36
NG_029191.2:g.22447_22450del
NG_029191.3:g.22447_22450del

Transcript Alleles

HGVS Amino-acid change
ENST00000337343.9:c.192+8517_192+8520del MANE Select ENSP00000337572.4:n.192+8517_192+8520del
ENST00000261491.9:c.192+8517_192+8520del ENSP00000261491.4:n.192+8517_192+8520del
ENST00000337343.8:c.192+8517_192+8520del ENSP00000337572.4:n.192+8517_192+8520del
ENST00000379274.6:c.192+8517_192+8520del ENSP00000368576.3:n.192+8517_192+8520del
ENST00000611224.1:c.144+8517_144+8520del ENSP00000482250.1:n.144+8517_144+8520del
NM_001204504.2:c.192+8517_192+8520del NP_001191433.1:n.192+8517_192+8520del
NM_152910.5:c.192+8517_192+8520del NP_690874.2:n.192+8517_192+8520del
NM_178009.4:c.192+8517_192+8520del NP_821077.1:n.192+8517_192+8520del
NM_152910.6:c.192+8517_192+8520del NP_690874.2:n.192+8517_192+8520del
NM_178009.5:c.192+8517_192+8520del MANE Select NP_821077.1:n.192+8517_192+8520del
NM_001204504.3:c.192+8517_192+8520del NP_001191433.1:n.192+8517_192+8520del