Canonical Allele Identifier: CA248519376
Gene: DGKH HGNC NCBI

Linked Data

dbSNP Id: rs1004278535
gnomAD v3: 13-42079297-ATACCAAGTTATGGGTATATG-A
gnomAD v4: 13-42079297-ATACCAAGTTATGGGTATATG-A
MyVariant Identifiers: chr13:g.42653434_42653453del (hg19) chr13:g.42079298_42079317del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.42079301_42079320del , CM000675.2:g.42079301_42079320del GRCh38
NC_000013.10:g.42653437_42653456del , CM000675.1:g.42653437_42653456del GRCh37
NC_000013.9:g.41551437_41551456del NCBI36
NG_029191.2:g.44266_44285del
NG_029191.3:g.44266_44285del

Transcript Alleles

HGVS Amino-acid change
ENST00000337343.9:c.192+30336_192+30355del MANE Select ENSP00000337572.4:n.192+30336_192+30355de...
ENST00000261491.9:c.192+30336_192+30355del ENSP00000261491.4:n.192+30336_192+30355de...
ENST00000337343.8:c.192+30336_192+30355del ENSP00000337572.4:n.192+30336_192+30355de...
ENST00000379274.6:c.192+30336_192+30355del ENSP00000368576.3:n.192+30336_192+30355de...
NM_001204504.2:c.192+30336_192+30355del NP_001191433.1:n.192+30336_192+30355del
NM_152910.5:c.192+30336_192+30355del NP_690874.2:n.192+30336_192+30355del
NM_178009.4:c.192+30336_192+30355del NP_821077.1:n.192+30336_192+30355del
NM_152910.6:c.192+30336_192+30355del NP_690874.2:n.192+30336_192+30355del
NM_178009.5:c.192+30336_192+30355del MANE Select NP_821077.1:n.192+30336_192+30355del
NM_001204504.3:c.192+30336_192+30355del NP_001191433.1:n.192+30336_192+30355del
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