LDH info

Canonical Allele Identifier: CA10576242
Gene: ACADM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 226103
ClinVar RCV Id: RCV000211550
dbSNP Id: rs875989874

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.75761188_75761189insTAGAATGAGTTAC , CM000663.2:g.75761188_75761189insTAGAATGAGTTAC GRCh38
NC_000001.10:g.76226873_76226874insTAGAATGAGTTAC , CM000663.1:g.76226873_76226874insTAGAATGAGTTAC GRCh37
NC_000001.9:g.75999461_75999462insTAGAATGAGTTAC NCBI36
NG_007045.2:g.41831_41832insTAGAATGAGTTAC

Transcript Alleles

HGVS Amino-acid change
NM_000016.5:c.1012_1013insTAGAATGAGTTAC VV NP_000007.1:p.Gln338LeufsTer3
NM_001127328.2:c.1024_1025insTAGAATGAGTTAC VV NP_001120800.1:p.Gln342LeufsTer3
NM_001286042.1:c.904_905insTAGAATGAGTTAC VV NP_001272971.1:p.Gln302LeufsTer3
NM_001286043.1:c.1111_1112insTAGAATGAGTTAC VV NP_001272972.1:p.Gln371LeufsTer3
NM_001286044.1:c.445_446insTAGAATGAGTTAC VV NP_001272973.1:p.Gln149LeufsTer3
ENST00000370834.9:c.1111_1112insTAGAATGAGTTAC ENSP00000359871.5:p.Gln371LeufsTer3
ENST00000370841.8:c.1012_1013insTAGAATGAGTTAC ENSP00000359878.4:p.Gln338LeufsTer3
ENST00000420607.6:c.1024_1025insTAGAATGAGTTAC ENSP00000409612.2:p.Gln342LeufsTer3
ENST00000481374.1:n.285_286insTAGAATGAGTTAC
ENST00000525808.5:c.*598_*599insTAGAATGAGTTAC ENSP00000434823.1:p.=
ENST00000526129.5:c.*796_*797insTAGAATGAGTTAC ENSP00000434092.1:p.=
ENST00000526196.5:c.*780_*781insTAGAATGAGTTAC ENSP00000431953.1:p.=
ENST00000528016.1:n.160-7989_160-7988insTAGAATGAGTTAC ENSP00000434284.1:p.=
ENST00000529059.5:n.921_922insTAGAATGAGTTAC
ENST00000532207.5:n.742_743insTAGAATGAGTTAC
ENST00000534334.5:c.*753_*754insTAGAATGAGTTAC ENSP00000435584.1:p.=
ENST00000541113.5:c.904_905insTAGAATGAGTTAC ENSP00000442324.1:p.Gln302LeufsTer3