Canonical Allele Identifier: CA658655759
Gene: VHL HGNC NCBI

Linked Data

ClinVar Variation Id: 480846
ClinVar RCV Id: RCV000564563 RCV000767278
dbSNP Id: rs1553620312
MyVariant Identifiers: chr3:g.10191490_10191507dup (hg19) chr3:g.10149806_10149823dup (hg38)
PubMed: PMID:23102223
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149806_10149823dup , CM000665.2:g.10149806_10149823dup GRCh38
NC_000003.11:g.10191490_10191507dup , CM000665.1:g.10191490_10191507dup GRCh37
NC_000003.10:g.10166490_10166507dup NCBI36
NG_008212.3:g.13172_13189dup , LRG_322:g.13172_13189dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*160_*177dup ENSP00000512434.1:n.*160_*177dup
ENST00000696143.1:c.619_636dup ENSP00000512435.1:n.619_636dup
ENST00000696153.1:c.594_611dup ENSP00000512444.1:p.Arg204_Ser205insCysLe...
ENST00000256474.3:c.483_500dup MANE Select ENSP00000256474.3:p.Arg167_Ser168insCysLe...
ENST00000256474.2:c.483_500dup ENSP00000256474.2:p.Arg167_Ser168insCysLe...
ENST00000345392.2:c.360_377dup ENSP00000344757.2:p.Arg126_Ser127insCysLe...
ENST00000477538.1:n.619_636dup
NM_000551.3:c.483_500dup , LRG_322t1:c.483_500dup NP_000542.1:p.Arg167_Ser168insCysLeuGlnVa...
NM_198156.2:c.360_377dup NP_937799.1:p.Arg126_Ser127insCysLeuGlnVa...
NM_001354723.1:c.*37_*54dup NP_001341652.1:n.*37_*54dup
NM_000551.4:c.483_500dup MANE Select NP_000542.1:p.Arg167_Ser168insCysLeuGlnVa...
NM_001354723.2:c.*37_*54dup NP_001341652.1:n.*37_*54dup
NM_198156.3:c.360_377dup NP_937799.1:p.Arg126_Ser127insCysLeuGlnVa...
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