LDH info

Canonical Allele Identifier: CA16040773
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371320
ClinVar RCV Id: RCV000410859
dbSNP Id: rs1057517179

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75732698_75732699del , CM000663.2:g.75732698_75732699del GRCh38
NC_000001.10:g.76198383_76198384del , CM000663.1:g.76198383_76198384del GRCh37
NC_000001.9:g.75970971_75970972del NCBI36
NG_007045.2:g.13341_13342del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.173_174del VV NP_000007.1:p.Glu58GlyfsTer10
NM_001127328.2:c.185_186del VV NP_001120800.1:p.Glu62GlyfsTer10
NM_001286042.1:c.65_66del VV NP_001272971.1:p.Glu22GlyfsTer10
NM_001286043.1:c.173_174del VV NP_001272972.1:p.Glu58GlyfsTer10
NM_001286044.1:c.-213_-212del VV NP_001272973.1:p.=
ENST00000370834.9:c.173_174del ENSP00000359871.5:p.Glu58GlyfsTer10
ENST00000370841.8:c.173_174del ENSP00000359878.4:p.Glu58GlyfsTer10
ENST00000420607.6:c.185_186del ENSP00000409612.2:p.Glu62GlyfsTer10
ENST00000473018.2:n.206_207del
ENST00000525808.5:c.85_86del ENSP00000434823.1:p.Arg29GlufsTer?
ENST00000525881.5:n.182_183del
ENST00000526129.5:c.173_174del ENSP00000434092.1:p.Glu58GlyfsTer10
ENST00000526196.5:c.85_86del ENSP00000431953.1:p.Arg29GlufsTer?
ENST00000529059.5:n.183_184del
ENST00000530953.6:c.118+4210_118+4211del ENSP00000431372.1:p.=
ENST00000532509.5:c.119-155_119-154del ENSP00000432522.1:p.=
ENST00000534146.5:n.252_253del
ENST00000534334.5:c.173_174del ENSP00000435584.1:p.Glu58GlyfsTer10
ENST00000541113.5:c.65_66del ENSP00000442324.1:p.Glu22GlyfsTer10