Canonical Allele Identifier: CA432421788
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM1651661
MyVariant Identifiers: chr3:g.10188204_10188205insT (hg19)
CIViC: CA432421788
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146522dup , CM000665.2:g.10146522dup GRCh38
NC_000003.11:g.10188206dup , CM000665.1:g.10188206dup GRCh37
NC_000003.10:g.10163206dup NCBI36
NG_008212.3:g.9888dup , LRG_322:g.9888dup

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*26dup ENSP00000512434.1:n.*26dup
ENST00000696143.1:c.600-3265dup ENSP00000512435.1:n.600-3265dup
ENST00000696153.1:c.349dup ENSP00000512444.1:p.Trp117LeufsTer15
ENST00000256474.3:c.349dup MANE Select ENSP00000256474.3:p.Trp117LeufsTer15
ENST00000256474.2:c.349dup ENSP00000256474.2:p.Trp117LeufsTer15
ENST00000345392.2:c.341-3265dup ENSP00000344757.2:n.341-3265dup
ENST00000477538.1:n.485dup
NM_000551.3:c.349dup , LRG_322t1:c.349dup NP_000542.1:p.Trp117LeufsTer15
NM_198156.2:c.341-3265dup NP_937799.1:n.341-3265dup
XM_011534078.1:c.*26dup XP_011532380.1:n.*26dup
NM_001354723.1:c.*18-3265dup NP_001341652.1:n.*18-3265dup
NM_000551.4:c.349dup MANE Select NP_000542.1:p.Trp117LeufsTer15
NM_001354723.2:c.*18-3265dup NP_001341652.1:n.*18-3265dup
NM_198156.3:c.341-3265dup NP_937799.1:n.341-3265dup
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