LDH info

Canonical Allele Identifier: CA345111
Gene: OTOF HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 65794
ClinVar RCV Id: RCV000056033
dbSNP Id: rs397515596

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26475982_26476000delinsTGCGCTCGGAG , CM000664.2:g.26475982_26476000delinsTGCGCTCGGAG GRCh38
NC_000002.11:g.26698850_26698868delinsTGCGCTCGGAG , CM000664.1:g.26698850_26698868delinsTGCGCTCGGAG GRCh37
NC_000002.10:g.26552354_26552372delinsTGCGCTCGGAG NCBI36
NG_009937.1:g.87699_87717delinsCTCCGAGCGCA

Transcript Alleles

HGVS Amino-acid change
NM_001287489.1:c.2905_2923delinsCTCCGAGCGCA VV NP_001274418.1:p.Ala969LeufsTer30
NM_004802.3:c.664_682delinsCTCCGAGCGCA VV NP_004793.2:p.Ala222LeufsTer30
NM_194248.2:c.2905_2923delinsCTCCGAGCGCA VV NP_919224.1:p.Ala969LeufsTer30
NM_194322.2:c.835_853delinsCTCCGAGCGCA VV NP_919303.1:p.Ala279LeufsTer30
NM_194323.2:c.664_682delinsCTCCGAGCGCA VV NP_919304.1:p.Ala222LeufsTer30
XM_005264644.2:n.2950_2968delinsCTCCGAGCGCA XP_005264701.1:p.Ala984LeufsTer30
XM_011533185.1:n.2950_2968delinsCTCCGAGCGCA XP_011531487.1:p.Ala984LeufsTer30
XM_017005338.1:n.2905_2923delinsCTCCGAGCGCA XP_016860827.1:p.Ala969LeufsTer30
NM_001287489.2:c.2905_2923delinsCTCCGAGCGCA VV NP_001274418.1:p.Ala969LeufsTer30
NM_004802.4:c.664_682delinsCTCCGAGCGCA VV NP_004793.2:p.Ala222LeufsTer30
NM_194248.3:c.2905_2923delinsCTCCGAGCGCA VV MANE Preferred NP_919224.1:p.Ala969LeufsTer30
NM_194322.3:c.835_853delinsCTCCGAGCGCA VV NP_919303.1:p.Ala279LeufsTer30
NM_194323.3:c.664_682delinsCTCCGAGCGCA VV NP_919304.1:p.Ala222LeufsTer30
ENST00000272371.6:c.2905_2923delinsCTCCGAGCGCA ENSP00000272371.2:p.Ala969LeufsTer30
ENST00000338581.10:c.664_682delinsCTCCGAGCGCA ENSP00000345137.6:p.Ala222LeufsTer30
ENST00000339598.7:c.664_682delinsCTCCGAGCGCA ENSP00000344521.3:p.Ala222LeufsTer30
ENST00000402415.7:c.835_853delinsCTCCGAGCGCA ENSP00000383906.3:p.Ala279LeufsTer30
ENST00000403946.7:c.2905_2923delinsCTCCGAGCGCA ENSP00000385255.3:p.Ala969LeufsTer30