Canonical Allele Identifier: CA432423169
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149807_10149808insA , CM000665.2:g.10149807_10149808insA GRCh38
NC_000003.11:g.10191491_10191492insA , CM000665.1:g.10191491_10191492insA GRCh37
NC_000003.10:g.10166491_10166492insA NCBI36
NG_008212.3:g.13173_13174insA , LRG_322:g.13173_13174insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*161_*162insA ENSP00000512434.1:n.*161_*162insA
ENST00000696143.1:c.620_621insA ENSP00000512435.1:n.620_621insA
ENST00000696153.1:c.595_596insA ENSP00000512444.1:p.Cys199Ter
ENST00000256474.3:c.484_485insA MANE Select ENSP00000256474.3:p.Cys162Ter
ENST00000256474.2:c.484_485insA ENSP00000256474.2:p.Cys162Ter
ENST00000345392.2:c.361_362insA ENSP00000344757.2:p.Cys121Ter
ENST00000477538.1:n.620_621insA
NM_000551.3:c.484_485insA , LRG_322t1:c.484_485insA NP_000542.1:p.Cys162Ter
NM_198156.2:c.361_362insA NP_937799.1:p.Cys121Ter
NM_001354723.1:c.*38_*39insA NP_001341652.1:n.*38_*39insA
NM_000551.4:c.484_485insA MANE Select NP_000542.1:p.Cys162Ter
NM_001354723.2:c.*38_*39insA NP_001341652.1:n.*38_*39insA
NM_198156.3:c.361_362insA NP_937799.1:p.Cys121Ter