LDH info

Canonical Allele Identifier: CA16617791
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 419677
ClinVar RCV Id: RCV000480482
dbSNP Id: rs1064794037

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149805_10149809del , CM000665.2:g.10149805_10149809del GRCh38
NC_000003.11:g.10191489_10191493del , CM000665.1:g.10191489_10191493del GRCh37
NC_000003.10:g.10166489_10166493del NCBI36
NG_008212.3:g.13171_13175del , LRG_322:g.13171_13175del

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.482_486del , LRG_322t1:c.482_486del NP_000542.1:p.Arg161ProfsTer11
NM_198156.2:c.359_363del VV NP_937799.1:p.Arg120ProfsTer11
NM_001354723.1:c.*36_*40del VV NP_001341652.1:p.=
NM_000551.4:c.482_486del VV MANE Preferred NP_000542.1:p.Arg161ProfsTer11
NM_001354723.2:c.*36_*40del VV NP_001341652.1:p.=
NM_198156.3:c.359_363del VV NP_937799.1:p.Arg120ProfsTer11
ENST00000256474.2:c.482_486del ENSP00000256474.2:p.Arg161ProfsTer11
ENST00000345392.2:c.359_363del ENSP00000344757.2:p.Arg120ProfsTer11
ENST00000477538.1:n.618_622del