LDH info

Canonical Allele Identifier: CA913064
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226102
dbSNP Id: rs875989873

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75733563_75733566del , CM000663.2:g.75733563_75733566del GRCh38
NC_000001.10:g.76199248_76199251del , CM000663.1:g.76199248_76199251del GRCh37
NC_000001.9:g.75971836_75971839del NCBI36
NG_007045.2:g.14206_14209del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.322_325del VV NP_000007.1:p.Ile108ValfsTer?
NM_001127328.2:c.334_337del VV NP_001120800.1:p.Ile112ValfsTer?
NM_001286042.1:c.214_217del VV NP_001272971.1:p.Ile72ValfsTer?
NM_001286043.1:c.421_424del VV NP_001272972.1:p.Ile141ValfsTer?
NM_001286044.1:c.-100+641_-100+644del VV NP_001272973.1:p.=
ENST00000370834.9:c.421_424del ENSP00000359871.5:p.Ile141ValfsTer?
ENST00000370841.8:c.322_325del ENSP00000359878.4:p.Ile108ValfsTer?
ENST00000420607.6:c.334_337del ENSP00000409612.2:p.Ile112ValfsTer?
ENST00000525808.5:c.*54+641_*54+644del ENSP00000434823.1:p.=
ENST00000526129.5:c.*106_*109del ENSP00000434092.1:p.=
ENST00000526196.5:c.*90_*93del ENSP00000431953.1:p.=
ENST00000529059.5:n.296+641_296+644del
ENST00000530953.6:c.118+5075_118+5078del ENSP00000431372.1:p.=
ENST00000532509.5:c.*86_*89del ENSP00000432522.1:p.=
ENST00000534334.5:c.286+641_286+644del ENSP00000435584.1:p.=
ENST00000541113.5:c.214_217del ENSP00000442324.1:p.Ile72ValfsTer?