Canonical Allele Identifier: CA432423503
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149857_10149858insT , CM000665.2:g.10149857_10149858insT GRCh38
NC_000003.11:g.10191541_10191542insT , CM000665.1:g.10191541_10191542insT GRCh37
NC_000003.10:g.10166541_10166542insT NCBI36
NG_008212.3:g.13223_13224insT , LRG_322:g.13223_13224insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*211_*212insT ENSP00000512434.1:n.*211_*212insT
ENST00000696143.1:c.670_671insT ENSP00000512435.1:n.670_671insT
ENST00000696153.1:c.645_646insT ENSP00000512444.1:p.Asp216Ter
ENST00000256474.3:c.534_535insT MANE Select ENSP00000256474.3:p.Asp179Ter
ENST00000256474.2:c.534_535insT ENSP00000256474.2:p.Asp179Ter
ENST00000345392.2:c.411_412insT ENSP00000344757.2:p.Asp138Ter
ENST00000477538.1:n.670_671insT
NM_000551.3:c.534_535insT , LRG_322t1:c.534_535insT NP_000542.1:p.Asp179Ter
NM_198156.2:c.411_412insT NP_937799.1:p.Asp138Ter
NM_001354723.1:c.*88_*89insT NP_001341652.1:n.*88_*89insT
NM_000551.4:c.534_535insT MANE Select NP_000542.1:p.Asp179Ter
NM_001354723.2:c.*88_*89insT NP_001341652.1:n.*88_*89insT
NM_198156.3:c.411_412insT NP_937799.1:p.Asp138Ter