Canonical Allele Identifier: CA020458
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 93329
ClinVar RCV Id: RCV000818637 RCV001023415
dbSNP Id: rs398123483
MyVariant Identifiers: chr3:g.10191508_10191509insTTGTCCGT (hg19) chr3:g.10149824_10149825insTTGTCCGT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149824_10149825insTTGTCCGT , CM000665.2:g.10149824_10149825insTTGTCCGT GRCh38
NC_000003.11:g.10191508_10191509insTTGTCCGT , CM000665.1:g.10191508_10191509insTTGTCCGT GRCh37
NC_000003.10:g.10166508_10166509insTTGTCCGT NCBI36
NG_008212.3:g.13190_13191insTTGTCCGT , LRG_322:g.13190_13191insTTGTCCGT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*178_*179insTTGTCCGT ENSP00000512434.1:n.*178_*179insTTGTCCGT
ENST00000696143.1:c.637_638insTTGTCCGT ENSP00000512435.1:n.637_638insTTGTCCGT
ENST00000696153.1:c.612_613insTTGTCCGT ENSP00000512444.1:p.Ser205LeufsTer5
ENST00000256474.3:c.501_502insTTGTCCGT MANE Select ENSP00000256474.3:p.Ser168LeufsTer5
ENST00000256474.2:c.501_502insTTGTCCGT ENSP00000256474.2:p.Ser168LeufsTer5
ENST00000345392.2:c.378_379insTTGTCCGT ENSP00000344757.2:p.Ser127LeufsTer5
ENST00000477538.1:n.637_638insTTGTCCGT
NM_000551.3:c.501_502insTTGTCCGT , LRG_322t1:c.501_502insTTGTCCGT NP_000542.1:p.Ser168LeufsTer5
NM_198156.2:c.378_379insTTGTCCGT NP_937799.1:p.Ser127LeufsTer5
NM_001354723.1:c.*55_*56insTTGTCCGT NP_001341652.1:n.*55_*56insTTGTCCGT
NM_000551.4:c.501_502insTTGTCCGT MANE Select NP_000542.1:p.Ser168LeufsTer5
NM_001354723.2:c.*55_*56insTTGTCCGT NP_001341652.1:n.*55_*56insTTGTCCGT
NM_198156.3:c.378_379insTTGTCCGT NP_937799.1:p.Ser127LeufsTer5
Search 100 bp 5'
Search 100 bp 3'