LDH info

Canonical Allele Identifier: CA16041728
Gene: IVD HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371578
ClinVar RCV Id: RCV000409035
dbSNP Id: rs1057517379

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40405929_40405930del , CM000677.2:g.40405929_40405930del GRCh38
NC_000015.9:g.40698130_40698131del , CM000677.1:g.40698130_40698131del GRCh37
NC_000015.8:g.38485422_38485423del NCBI36
NG_011986.1:g.5445_5446del
NG_011986.2:g.5445_5446del

Transcript Alleles

HGVS Amino-acid change
NM_001159508.1:c.111_112del VV NP_001152980.1:p.Val38GlyfsTer?
NM_002225.3:c.111_112del VV NP_002216.2:p.Val38GlyfsTer20
XM_005254350.2:n.111_112del XP_005254407.1:p.Val38GlyfsTer20
XM_005254356.2:n.111_112del XP_005254413.1:p.Val38GlyfsTer20
XM_006720492.2:n.111_112del XP_006720555.1:p.Val38GlyfsTer20
XM_006720493.2:n.111_112del XP_006720556.1:p.Val38GlyfsTer20
XM_006720494.2:n.111_112del XP_006720557.1:p.Val38GlyfsTer20
XM_006720495.2:n.111_112del XP_006720558.1:p.Val38GlyfsTer20
XM_011521523.1:n.111_112del XP_011519825.1:p.Val38GlyfsTer20
XM_011521524.1:n.111_112del XP_011519826.1:p.Val38GlyfsTer20
XR_243097.3:n.111_112del
XR_243098.2:n.111_112del
XR_429453.2:n.212_213del
NM_001159508.2:c.102_103del VV NP_001152980.2:p.Val35GlyfsTer?
NM_001354597.2:c.-326_-325del VV NP_001341526.1:p.=
NM_001354598.2:c.102_103del VV NP_001341527.2:p.Val35GlyfsTer20
NM_001354599.2:c.102_103del VV NP_001341528.2:p.Val35GlyfsTer20
NM_001354600.2:c.102_103del VV NP_001341529.2:p.Val35GlyfsTer20
NM_001354601.2:c.102_103del VV NP_001341530.2:p.Val35GlyfsTer20
NM_002225.4:c.102_103del VV NP_002216.3:p.Val35GlyfsTer20
NR_148925.1:n.133_134del
XM_006720495.3:c.111_112del XP_006720558.1:p.Val38GlyfsTer20
XM_017022149.1:c.111_112del XP_016877638.1:p.Val38GlyfsTer20
XM_017022150.1:c.111_112del XP_016877639.1:p.Val38GlyfsTer20
XM_017022153.1:c.111_112del XP_016877642.1:p.Val38GlyfsTer20
XM_017022155.2:c.111_112del XP_016877644.1:p.Val38GlyfsTer20
XM_017022157.1:c.111_112del XP_016877646.1:p.Val38GlyfsTer20
XM_017022158.2:c.111_112del XP_016877647.1:p.Val38GlyfsTer20
XR_001751263.1:n.82_83del
XR_001751264.1:n.123_124del
NM_001159508.3:c.102_103del VV NP_001152980.2:p.Val35GlyfsTer?
NM_001354597.3:c.-326_-325del VV NP_001341526.1:p.=
NM_001354598.3:c.102_103del VV NP_001341527.2:p.Val35GlyfsTer20
NM_001354599.3:c.102_103del VV NP_001341528.2:p.Val35GlyfsTer20
NM_001354600.3:c.102_103del VV NP_001341529.2:p.Val35GlyfsTer20
NM_001354601.3:c.102_103del VV NP_001341530.2:p.Val35GlyfsTer20
NM_002225.5:c.102_103del VV NP_002216.3:p.Val35GlyfsTer20
NR_148925.2:n.135_136del
ENST00000479013.6:c.111_112del ENSP00000417990.2:p.Val38GlyfsTer?
ENST00000487418.6:c.111_112del ENSP00000418397.2:p.Val38GlyfsTer20
ENST00000610693.4:c.111_112del ENSP00000479359.1:p.Val38GlyfsTer20