LDH info

Canonical Allele Identifier: CA16040779
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371546
dbSNP Id: rs1057517356

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75734834_75734837del , CM000663.2:g.75734834_75734837del GRCh38
NC_000001.10:g.76200519_76200522del , CM000663.1:g.76200519_76200522del GRCh37
NC_000001.9:g.75973107_75973110del NCBI36
NG_007045.2:g.15477_15480del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.431_434del VV NP_000007.1:p.Lys144IlefsTer5
NM_001127328.2:c.443_446del VV NP_001120800.1:p.Lys148IlefsTer5
NM_001286042.1:c.323_326del VV NP_001272971.1:p.Lys108IlefsTer5
NM_001286043.1:c.530_533del VV NP_001272972.1:p.Lys177IlefsTer5
NM_001286044.1:c.-100+1912_-100+1915del VV NP_001272973.1:p.=
NM_000016.6:c.431_434del VV MANE Preferred NP_000007.1:p.Lys144IlefsTer5
ENST00000370834.9:c.530_533del ENSP00000359871.5:p.Lys177IlefsTer5
ENST00000370841.8:c.431_434del ENSP00000359878.4:p.Lys144IlefsTer5
ENST00000420607.6:c.443_446del ENSP00000409612.2:p.Lys148IlefsTer5
ENST00000525808.5:c.*54+1912_*54+1915del ENSP00000434823.1:p.=
ENST00000526129.5:c.*215_*218del ENSP00000434092.1:p.=
ENST00000526196.5:c.*199_*202del ENSP00000431953.1:p.=
ENST00000526930.1:n.204_207del
ENST00000529059.5:n.340_343del
ENST00000530953.6:c.119-5146_119-5143del ENSP00000431372.1:p.=
ENST00000532509.5:c.*195_*198del ENSP00000432522.1:p.=
ENST00000534334.5:c.*15_*18del ENSP00000435584.1:p.=
ENST00000541113.5:c.323_326del ENSP00000442324.1:p.Lys108IlefsTer5