LDH info

Canonical Allele Identifier: CA16611078
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 411961
ClinVar RCV Id: RCV000462489
dbSNP Id: rs1060503552

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142073_10142074del , CM000665.2:g.10142073_10142074del GRCh38
NC_000003.11:g.10183757_10183758del , CM000665.1:g.10183757_10183758del GRCh37
NC_000003.10:g.10158757_10158758del NCBI36
NG_008212.3:g.5439_5440del , LRG_322:g.5439_5440del

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.226_227del , LRG_322t1:c.226_227del NP_000542.1:p.Phe76LeufsTer?
NM_198156.2:c.226_227del VV NP_937799.1:p.Phe76LeufsTer?
XM_011534078.1:c.226_227del XP_011532380.1:p.Phe76LeufsTer?
NM_001354723.1:c.226_227del VV NP_001341652.1:p.Phe76LeufsTer?
NM_000551.4:c.226_227del VV MANE Preferred NP_000542.1:p.Phe76LeufsTer?
NM_001354723.2:c.226_227del VV NP_001341652.1:p.Phe76LeufsTer?
NM_198156.3:c.226_227del VV NP_937799.1:p.Phe76LeufsTer?
ENST00000256474.2:c.226_227del ENSP00000256474.2:p.Phe76LeufsTer?
ENST00000345392.2:c.226_227del ENSP00000344757.2:p.Phe76LeufsTer?