Canonical Allele Identifier: CA16621939
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149788_10149793del , CM000665.2:g.10149788_10149793del GRCh38
NC_000003.11:g.10191472_10191477del , CM000665.1:g.10191472_10191477del GRCh37
NC_000003.10:g.10166472_10166477del NCBI36
NG_008212.3:g.13154_13159del , LRG_322:g.13154_13159del

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*142_*147del ENSP00000512434.1:n.*142_*147del
ENST00000696143.1:c.601_606del ENSP00000512435.1:n.601_606del
ENST00000696153.1:c.576_581del ENSP00000512444.1:p.Tyr193_Thr194del
ENST00000256474.3:c.465_470del MANE Select ENSP00000256474.3:p.Tyr156_Thr157del
ENST00000256474.2:c.465_470del ENSP00000256474.2:p.Tyr156_Thr157del
ENST00000345392.2:c.342_347del ENSP00000344757.2:p.Tyr115_Thr116del
ENST00000477538.1:n.601_606del
NM_000551.3:c.465_470del , LRG_322t1:c.465_470del NP_000542.1:p.Tyr156_Thr157del
NM_198156.2:c.342_347del NP_937799.1:p.Tyr115_Thr116del
NM_001354723.1:c.*19_*24del NP_001341652.1:n.*19_*24del
NM_000551.4:c.465_470del MANE Select NP_000542.1:p.Tyr156_Thr157del
NM_001354723.2:c.*19_*24del NP_001341652.1:n.*19_*24del
NM_198156.3:c.342_347del NP_937799.1:p.Tyr115_Thr116del