LDH info

Canonical Allele Identifier: CA913106
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370885
ClinVar RCV Id: RCV000412440

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75734838del , CM000663.2:g.75734838del GRCh38
NC_000001.10:g.76200523del , CM000663.1:g.76200523del GRCh37
NC_000001.9:g.75973111del NCBI36
NG_007045.2:g.15481del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.435del VV NP_000007.1:p.Leu146TrpfsTer4
NM_001127328.2:c.447del VV NP_001120800.1:p.Leu150TrpfsTer4
NM_001286042.1:c.327del VV NP_001272971.1:p.Leu110TrpfsTer4
NM_001286043.1:c.534del VV NP_001272972.1:p.Leu179TrpfsTer4
NM_001286044.1:c.-100+1916del VV NP_001272973.1:p.=
NM_000016.6:c.435del VV MANE Preferred NP_000007.1:p.Leu146TrpfsTer4
ENST00000370834.9:c.534del ENSP00000359871.5:p.Leu179TrpfsTer4
ENST00000370841.8:c.435del ENSP00000359878.4:p.Leu146TrpfsTer4
ENST00000420607.6:c.447del ENSP00000409612.2:p.Leu150TrpfsTer4
ENST00000525808.5:c.*54+1916del ENSP00000434823.1:p.=
ENST00000526129.5:c.*219del ENSP00000434092.1:p.=
ENST00000526196.5:c.*203del ENSP00000431953.1:p.=
ENST00000526930.1:n.208del
ENST00000529059.5:n.344del
ENST00000530953.6:c.119-5142del ENSP00000431372.1:p.=
ENST00000532509.5:c.*199del ENSP00000432522.1:p.=
ENST00000534334.5:c.*19del ENSP00000435584.1:p.=
ENST00000541113.5:c.327del ENSP00000442324.1:p.Leu110TrpfsTer4