LDH info

Canonical Allele Identifier: CA125334
Gene: HBB HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 15479
ClinVar RCV Id: RCV000016737
dbSNP Id: rs63750837

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5226597_5226599del , CM000673.2:g.5226597_5226599del GRCh38
NC_000011.9:g.5247827_5247829del , CM000673.1:g.5247827_5247829del GRCh37
NC_000011.8:g.5204403_5204405del NCBI36
NG_000007.3:g.71017_71019del
NG_059281.1:g.5473_5475del

Transcript Alleles

HGVS Amino-acid change
NM_000518.4:c.293_295del VV NP_000509.1:p.His98_Val99delinsLeu
NM_000518.5:c.293_295del VV MANE Preferred NP_000509.1:p.His98_Val99delinsLeu
ENST00000335295.4:c.293_295del ENSP00000333994.3:p.His98_Val99delinsLeu
ENST00000475226.1:n.225_227del
ENST00000485743.1:n.344_346del
ENST00000633227.1:c.*109_*111del ENSP00000488004.1:p.=