LDH info

Canonical Allele Identifier: CA344722
Gene: CSTB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 55960
dbSNP Id: rs796943858

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.43774284_43774285del , CM000683.2:g.43774284_43774285del GRCh38
NC_000021.8:g.45194165_45194166del , CM000683.1:g.45194165_45194166del GRCh37
NC_000021.7:g.44018593_44018594del NCBI36
NG_011545.1:g.7098_7099del , LRG_485:g.7098_7099del

Transcript Alleles

HGVS Amino-acid change
NM_000100.3:c.218_219del , LRG_485t1:c.218_219del NP_000091.1:p.Leu73ProfsTer3
NM_000100.4:c.218_219del VV MANE Preferred NP_000091.1:p.Leu73ProfsTer3
ENST00000291568.5:c.218_219del ENSP00000291568.5:p.Leu73ProfsTer3
ENST00000480147.1:n.582_583del