LDH info

Canonical Allele Identifier: CA16621525
Gene: DGKE HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 424621
ClinVar RCV Id: RCV000487442
dbSNP Id: rs1064797074

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.56845793_56845796del , CM000679.2:g.56845793_56845796del GRCh38
NC_000017.10:g.54923154_54923157del , CM000679.1:g.54923154_54923157del GRCh37
NC_000017.9:g.52278153_52278156del NCBI36
NG_033888.1:g.16695_16698del

Transcript Alleles

HGVS Amino-acid change
NM_003647.2:c.728_731del VV NP_003638.1:p.Leu243Ter
XM_011525394.1:c.782_785del XP_011523696.1:p.Leu261Ter
XM_011525395.1:c.782_785del XP_011523697.1:p.Leu261Ter
XM_011525396.1:c.782_785del XP_011523698.1:p.Leu261Ter
XM_011525397.1:c.782_785del XP_011523699.1:p.Leu261Ter
XM_011525398.1:c.272_275del XP_011523700.1:p.Leu91Ter
XR_934581.1:n.881_884del
XM_011525394.3:c.782_785del XP_011523696.1:p.Leu261Ter
XM_011525395.2:c.782_785del XP_011523697.1:p.Leu261Ter
XM_011525396.2:c.782_785del XP_011523698.1:p.Leu261Ter
XM_017025243.2:c.728_731del XP_016880732.1:p.Leu243Ter
XM_017025244.2:c.782_785del XP_016880733.1:p.Leu261Ter
XR_001752670.2:n.914_917del
XR_001752671.1:n.893_896del
XR_001752672.1:n.894_897del
XR_002958079.1:n.892_895del
NM_003647.3:c.728_731del VV MANE Preferred NP_003638.1:p.Leu243Ter
ENST00000284061.7:c.728_731del ENSP00000284061.3:p.Leu243Ter
ENST00000571084.1:n.264_267del
ENST00000572944.1:n.558_561del
ENST00000576869.5:n.876_879del