LDH info

Canonical Allele Identifier: CA125279
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15413
dbSNP Id: rs35497102

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226996_5226997del , CM000673.2:g.5226996_5226997del GRCh38
NC_000011.9:g.5248226_5248227del , CM000673.1:g.5248226_5248227del GRCh37
NC_000011.8:g.5204802_5204803del NCBI36
NG_000007.3:g.70619_70620del
NG_059281.1:g.5075_5076del

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.25_26del VV NP_000509.1:p.Lys9ValfsTer14
NM_000518.5:c.25_26del VV MANE Preferred NP_000509.1:p.Lys9ValfsTer14
ENST00000335295.4:c.25_26del ENSP00000333994.3:p.Lys9ValfsTer14
ENST00000380315.2:c.25_26del ENSP00000369671.2:p.Lys9ValfsTer14
ENST00000485743.1:n.76_77del
ENST00000633227.1:c.25_26del ENSP00000488004.1:p.Lys9ValfsTer14