Canonical Allele Identifier: CA432423426
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149845_10149846insA , CM000665.2:g.10149845_10149846insA GRCh38
NC_000003.11:g.10191529_10191530insA , CM000665.1:g.10191529_10191530insA GRCh37
NC_000003.10:g.10166529_10166530insA NCBI36
NG_008212.3:g.13211_13212insA , LRG_322:g.13211_13212insA

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*199_*200insA ENSP00000512434.1:n.*199_*200insA
ENST00000696143.1:c.658_659insA ENSP00000512435.1:n.658_659insA
ENST00000696153.1:c.633_634insA ENSP00000512444.1:p.Tyr212IlefsTer?
ENST00000256474.3:c.522_523insA MANE Select ENSP00000256474.3:p.Tyr175IlefsTer?
ENST00000256474.2:c.522_523insA ENSP00000256474.2:p.Tyr175IlefsTer?
ENST00000345392.2:c.399_400insA ENSP00000344757.2:p.Tyr134IlefsTer?
ENST00000477538.1:n.658_659insA
NM_000551.3:c.522_523insA , LRG_322t1:c.522_523insA NP_000542.1:p.Tyr175IlefsTer?
NM_198156.2:c.399_400insA NP_937799.1:p.Tyr134IlefsTer?
NM_001354723.1:c.*76_*77insA NP_001341652.1:n.*76_*77insA
NM_000551.4:c.522_523insA MANE Select NP_000542.1:p.Tyr175IlefsTer?
NM_001354723.2:c.*76_*77insA NP_001341652.1:n.*76_*77insA
NM_198156.3:c.399_400insA NP_937799.1:p.Tyr134IlefsTer?