LDH info

Canonical Allele Identifier: CA125290
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15424
dbSNP Id: rs267607297

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226784del , CM000673.2:g.5226784del GRCh38
NC_000011.9:g.5248014del , CM000673.1:g.5248014del GRCh37
NC_000011.8:g.5204590del NCBI36
NG_000007.3:g.70834del
NG_059281.1:g.5290del

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.110del VV NP_000509.1:p.Pro37LeufsTer25
NM_000518.5:c.110del VV MANE Preferred NP_000509.1:p.Pro37LeufsTer25
ENST00000335295.4:c.110del ENSP00000333994.3:p.Pro37LeufsTer25
ENST00000380315.2:c.110del ENSP00000369671.2:p.Pro37LeufsTer25
ENST00000475226.1:n.42del
ENST00000485743.1:n.161del
ENST00000633227.1:c.94del ENSP00000488004.1:p.Gly33AspfsTer6