LDH info

Canonical Allele Identifier: CA645369330
Gene: VHL HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 428797
ClinVar RCV Id: RCV000492267
dbSNP Id: rs1131690955

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146591_10146592insA , CM000665.2:g.10146591_10146592insA GRCh38
NC_000003.11:g.10188275_10188276insA , CM000665.1:g.10188275_10188276insA GRCh37
NC_000003.10:g.10163275_10163276insA NCBI36
NG_008212.3:g.9957_9958insA , LRG_322:g.9957_9958insA

Transcript Alleles

HGVS Amino-acid change
NM_000551.3:c.418_419insA , LRG_322t1:c.418_419insA NP_000542.1:p.Leu140HisfsTer4
NM_198156.2:c.341-3196_341-3195insA VV NP_937799.1:p.=
XM_011534078.1:c.*95_*96insA XP_011532380.1:p.=
NM_001354723.1:c.*18-3196_*18-3195insA VV NP_001341652.1:p.=
NM_000551.4:c.418_419insA VV MANE Preferred NP_000542.1:p.Leu140HisfsTer4
NM_001354723.2:c.*18-3196_*18-3195insA VV NP_001341652.1:p.=
NM_198156.3:c.341-3196_341-3195insA VV NP_937799.1:p.=
ENST00000256474.2:c.418_419insA ENSP00000256474.2:p.Leu140HisfsTer4
ENST00000345392.2:c.341-3196_341-3195insA ENSP00000344757.2:p.=
ENST00000477538.1:n.554_555insA