LDH info

Canonical Allele Identifier: CA645369328
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 429679
ClinVar RCV Id: RCV000494175
dbSNP Id: rs1131691526

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146529_10146530insGG , CM000665.2:g.10146529_10146530insGG GRCh38
NC_000003.11:g.10188213_10188214insGG , CM000665.1:g.10188213_10188214insGG GRCh37
NC_000003.10:g.10163213_10163214insGG NCBI36
NG_008212.3:g.9895_9896insGG , LRG_322:g.9895_9896insGG

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.356_357insGG , LRG_322t1:c.356_357insGG NP_000542.1:p.Phe119LeufsTer?
NM_198156.2:c.341-3258_341-3257insGG VV NP_937799.1:p.=
XM_011534078.1:c.*33_*34insGG XP_011532380.1:p.=
NM_001354723.1:c.*18-3258_*18-3257insGG VV NP_001341652.1:p.=
NM_000551.4:c.356_357insGG VV MANE Preferred NP_000542.1:p.Phe119LeufsTer?
NM_001354723.2:c.*18-3258_*18-3257insGG VV NP_001341652.1:p.=
NM_198156.3:c.341-3258_341-3257insGG VV NP_937799.1:p.=
ENST00000256474.2:c.356_357insGG ENSP00000256474.2:p.Phe119LeufsTer?
ENST00000345392.2:c.341-3258_341-3257insGG ENSP00000344757.2:p.=
ENST00000477538.1:n.492_493insGG