LDH info

Canonical Allele Identifier: CA255739
Gene: CHM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 11152
ClinVar RCV Id: RCV000011902
dbSNP Id: rs587776746

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.85878987_85878990del , CM000685.2:g.85878987_85878990del GRCh38
NC_000023.10:g.85133992_85133995del , CM000685.1:g.85133992_85133995del GRCh37
NC_000023.9:g.85020648_85020651del NCBI36
NG_009874.2:g.173568_173571del , LRG_699:g.173568_173571del

Transcript Alleles

HGVS Amino-acid change
NM_000390.2:c.1579_1582del , LRG_699t1:c.1579_1582del NP_000381.1:p.Val529HisfsTer7
XM_006724615.2:c.1516_1519del XP_006724678.1:p.Val508HisfsTer7
XM_011530839.1:c.1135_1138del XP_011529141.1:p.Val381HisfsTer7
NM_000390.3:c.1579_1582del VV NP_000381.1:p.Val529HisfsTer7
NM_001320959.1:c.1135_1138del VV NP_001307888.1:p.Val381HisfsTer7
NM_001362517.1:c.1135_1138del VV NP_001349446.1:p.Val381HisfsTer7
NM_001362518.1:c.1135_1138del VV NP_001349447.1:p.Val381HisfsTer7
NM_001362519.1:c.1135_1138del VV NP_001349448.1:p.Val381HisfsTer7
XM_017029242.2:c.1579_1582del XP_016884731.1:p.Val529HisfsTer7
XM_017029246.1:c.1135_1138del XP_016884735.1:p.Val381HisfsTer7
XM_024452331.1:c.1135_1138del XP_024308099.1:p.Val381HisfsTer7
NM_000390.4:c.1579_1582del VV MANE Preferred NP_000381.1:p.Val529HisfsTer7
NM_001362518.2:c.1135_1138del VV NP_001349447.1:p.Val381HisfsTer7
ENST00000357749.6:c.1579_1582del ENSP00000350386.2:p.Val529HisfsTer7
ENST00000467744.2:n.127-15901_127-15898del