LDH info

Canonical Allele Identifier: CA124843
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15166
ClinVar RCV Id: RCV000016337
dbSNP Id: rs34160180

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226950_5226952del , CM000673.2:g.5226950_5226952del GRCh38
NC_000011.9:g.5248180_5248182del , CM000673.1:g.5248180_5248182del GRCh37
NC_000011.8:g.5204756_5204758del NCBI36
NG_000007.3:g.70665_70667del
NG_059281.1:g.5121_5123del

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.71_73del VV NP_000509.1:p.Val24del
NM_000518.5:c.71_73del VV MANE Preferred NP_000509.1:p.Val24del
ENST00000335295.4:c.71_73del ENSP00000333994.3:p.Val24del
ENST00000380315.2:c.71_73del ENSP00000369671.2:p.Val24del
ENST00000485743.1:n.122_124del
ENST00000633227.1:c.71_73del ENSP00000488004.1:p.Val24del