LDH info

Canonical Allele Identifier: CA10576246
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226069
ClinVar RCV Id: RCV000211509
dbSNP Id: rs875989860

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75762718_75762719del , CM000663.2:g.75762718_75762719del GRCh38
NC_000001.10:g.76228403_76228404del , CM000663.1:g.76228403_76228404del GRCh37
NC_000001.9:g.76000991_76000992del NCBI36
NG_007045.2:g.43361_43362del

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.1221_1222del VV NP_000007.1:p.Arg408ThrfsTer6
NM_001127328.2:c.1233_1234del VV NP_001120800.1:p.Arg412ThrfsTer6
NM_001286042.1:c.1113_1114del VV NP_001272971.1:p.Arg372ThrfsTer6
NM_001286043.1:c.1320_1321del VV NP_001272972.1:p.Arg441ThrfsTer6
NM_001286044.1:c.654_655del VV NP_001272973.1:p.Arg219ThrfsTer6
ENST00000370834.9:c.1320_1321del ENSP00000359871.5:p.Arg441ThrfsTer6
ENST00000370841.8:c.1221_1222del ENSP00000359878.4:p.Arg408ThrfsTer6
ENST00000420607.6:c.1233_1234del ENSP00000409612.2:p.Arg412ThrfsTer6
ENST00000481374.1:n.468-575_468-574del
ENST00000525808.5:c.*807_*808del ENSP00000434823.1:p.=
ENST00000526196.5:c.*989_*990del ENSP00000431953.1:p.=
ENST00000528016.1:n.160-6459_160-6458del ENSP00000434284.1:p.=
ENST00000529059.5:n.1130_1131del
ENST00000541113.5:c.1113_1114del ENSP00000442324.1:p.Arg372ThrfsTer6