LDH info

Canonical Allele Identifier: CA645369329
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 428798
ClinVar RCV Id: RCV000492390
dbSNP Id: rs1131690956

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146531del , CM000665.2:g.10146531del GRCh38
NC_000003.11:g.10188215del , CM000665.1:g.10188215del GRCh37
NC_000003.10:g.10163215del NCBI36
NG_008212.3:g.9897del , LRG_322:g.9897del

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.358del , LRG_322t1:c.358del NP_000542.1:p.Arg120GlufsTer?
NM_198156.2:c.341-3256del VV NP_937799.1:p.=
XM_011534078.1:c.*35del XP_011532380.1:p.=
NM_001354723.1:c.*18-3256del VV NP_001341652.1:p.=
NM_000551.4:c.358del VV MANE Preferred NP_000542.1:p.Arg120GlufsTer?
NM_001354723.2:c.*18-3256del VV NP_001341652.1:p.=
NM_198156.3:c.341-3256del VV NP_937799.1:p.=
ENST00000256474.2:c.358del ENSP00000256474.2:p.Arg120GlufsTer?
ENST00000345392.2:c.341-3256del ENSP00000344757.2:p.=
ENST00000477538.1:n.494del