Canonical Allele Identifier: CA16621943
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10149822_10149827delinsT , CM000665.2:g.10149822_10149827delinsT GRCh38
NC_000003.11:g.10191506_10191511delinsT , CM000665.1:g.10191506_10191511delinsT GRCh37
NC_000003.10:g.10166506_10166511delinsT NCBI36
NG_008212.3:g.13188_13193delinsT , LRG_322:g.13188_13193delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.*176_*181delinsT ENSP00000512434.1:n.*176_*181delinsT
ENST00000696143.1:c.635_640delinsT ENSP00000512435.1:n.635_640delinsT
ENST00000696153.1:c.610_615delinsT ENSP00000512444.1:p.Arg204SerfsTer5
ENST00000256474.3:c.499_504delinsT MANE Select ENSP00000256474.3:p.Arg167SerfsTer5
ENST00000256474.2:c.499_504delinsT ENSP00000256474.2:p.Arg167SerfsTer5
ENST00000345392.2:c.376_381delinsT ENSP00000344757.2:p.Arg126SerfsTer5
ENST00000477538.1:n.635_640delinsT
NM_000551.3:c.499_504delinsT , LRG_322t1:c.499_504delinsT NP_000542.1:p.Arg167SerfsTer5
NM_198156.2:c.376_381delinsT NP_937799.1:p.Arg126SerfsTer5
NM_001354723.1:c.*53_*58delinsT NP_001341652.1:n.*53_*58delinsT
NM_000551.4:c.499_504delinsT MANE Select NP_000542.1:p.Arg167SerfsTer5
NM_001354723.2:c.*53_*58delinsT NP_001341652.1:n.*53_*58delinsT
NM_198156.3:c.376_381delinsT NP_937799.1:p.Arg126SerfsTer5