Canonical Allele Identifier: CA432423215
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149814_10149815insC , CM000665.2:g.10149814_10149815insC GRCh38
NC_000003.11:g.10191498_10191499insC , CM000665.1:g.10191498_10191499insC GRCh37
NC_000003.10:g.10166498_10166499insC NCBI36
NG_008212.3:g.13180_13181insC , LRG_322:g.13180_13181insC

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*168_*169insC ENSP00000512434.1:n.*168_*169insC
ENST00000696143.1:c.627_628insC ENSP00000512435.1:n.627_628insC
ENST00000696153.1:c.602_603insC ENSP00000512444.1:p.Gln201HisfsTer10
ENST00000256474.3:c.491_492insC MANE Select ENSP00000256474.3:p.Gln164HisfsTer10
ENST00000256474.2:c.491_492insC ENSP00000256474.2:p.Gln164HisfsTer10
ENST00000345392.2:c.368_369insC ENSP00000344757.2:p.Gln123HisfsTer10
ENST00000477538.1:n.627_628insC
NM_000551.3:c.491_492insC , LRG_322t1:c.491_492insC NP_000542.1:p.Gln164HisfsTer10
NM_198156.2:c.368_369insC NP_937799.1:p.Gln123HisfsTer10
NM_001354723.1:c.*45_*46insC NP_001341652.1:n.*45_*46insC
NM_000551.4:c.491_492insC MANE Select NP_000542.1:p.Gln164HisfsTer10
NM_001354723.2:c.*45_*46insC NP_001341652.1:n.*45_*46insC
NM_198156.3:c.368_369insC NP_937799.1:p.Gln123HisfsTer10