LDH info

Canonical Allele Identifier: CA16040785
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371613
ClinVar RCV Id: RCV000411393
dbSNP Id: rs1057517411

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761247del , CM000663.2:g.75761247del GRCh38
NC_000001.10:g.76226932del , CM000663.1:g.76226932del GRCh37
NC_000001.9:g.75999520del NCBI36
NG_007045.2:g.41890del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.1071del VV NP_000007.1:p.Lys358ArgfsTer11
NM_001127328.2:c.1083del VV NP_001120800.1:p.Lys362ArgfsTer11
NM_001286042.1:c.963del VV NP_001272971.1:p.Lys322ArgfsTer11
NM_001286043.1:c.1170del VV NP_001272972.1:p.Lys391ArgfsTer11
NM_001286044.1:c.504del VV NP_001272973.1:p.Lys169ArgfsTer11
NM_000016.6:c.1071del VV MANE Preferred NP_000007.1:p.Lys358ArgfsTer11
ENST00000370834.9:c.1170del ENSP00000359871.5:p.Lys391ArgfsTer11
ENST00000370841.8:c.1071del ENSP00000359878.4:p.Lys358ArgfsTer11
ENST00000420607.6:c.1083del ENSP00000409612.2:p.Lys362ArgfsTer11
ENST00000481374.1:n.344del
ENST00000525808.5:c.*657del ENSP00000434823.1:p.=
ENST00000526129.5:c.*855del ENSP00000434092.1:p.=
ENST00000526196.5:c.*839del ENSP00000431953.1:p.=
ENST00000528016.1:n.160-7930del ENSP00000434284.1:p.=
ENST00000529059.5:n.980del
ENST00000541113.5:c.963del ENSP00000442324.1:p.Lys322ArgfsTer11