LDH info

Canonical Allele Identifier: CA274299
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 189036
dbSNP Id: rs786204642

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75734852_75734855del , CM000663.2:g.75734852_75734855del GRCh38
NC_000001.10:g.76200537_76200540del , CM000663.1:g.76200537_76200540del GRCh37
NC_000001.9:g.75973125_75973128del NCBI36
NG_007045.2:g.15495_15498del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.449_452del VV NP_000007.1:p.Thr150ArgfsTer4
NM_001127328.2:c.461_464del VV NP_001120800.1:p.Thr154ArgfsTer4
NM_001286042.1:c.341_344del VV NP_001272971.1:p.Thr114ArgfsTer4
NM_001286043.1:c.548_551del VV NP_001272972.1:p.Thr183ArgfsTer4
NM_001286044.1:c.-100+1930_-100+1933del VV NP_001272973.1:p.=
NM_000016.6:c.449_452del VV NP_000007.1:p.Thr150ArgfsTer4
ENST00000370834.9:c.548_551del ENSP00000359871.5:p.Thr183ArgfsTer4
ENST00000370841.8:c.449_452del ENSP00000359878.4:p.Thr150ArgfsTer4
ENST00000420607.6:c.461_464del ENSP00000409612.2:p.Thr154ArgfsTer4
ENST00000525808.5:c.*54+1930_*54+1933del ENSP00000434823.1:p.=
ENST00000526129.5:c.*233_*236del ENSP00000434092.1:p.=
ENST00000526196.5:c.*217_*220del ENSP00000431953.1:p.=
ENST00000526930.1:n.222_225del
ENST00000529059.5:n.358_361del
ENST00000530953.6:c.119-5128_119-5125del ENSP00000431372.1:p.=
ENST00000532509.5:c.*213_*216del ENSP00000432522.1:p.=
ENST00000534334.5:c.*33_*36del ENSP00000435584.1:p.=
ENST00000541113.5:c.341_344del ENSP00000442324.1:p.Thr114ArgfsTer4