Canonical Allele Identifier: CA645524654
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM33995

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142018_10142024del , CM000665.2:g.10142018_10142024del GRCh38
NC_000003.11:g.10183702_10183708del , CM000665.1:g.10183702_10183708del GRCh37
NC_000003.10:g.10158702_10158708del NCBI36
NG_008212.3:g.5384_5390del , LRG_322:g.5384_5390del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.171_177del ENSP00000512434.1:p.Arg58GlyfsTer7
ENST00000696143.1:c.171_177del ENSP00000512435.1:p.Arg58GlyfsTer7
ENST00000696153.1:c.171_177del ENSP00000512444.1:p.Arg58GlyfsTer7
ENST00000256474.3:c.171_177del MANE Select ENSP00000256474.3:p.Arg58GlyfsTer7
ENST00000256474.2:c.171_177del ENSP00000256474.2:p.Arg58GlyfsTer7
ENST00000345392.2:c.171_177del ENSP00000344757.2:p.Arg58GlyfsTer7
NM_000551.3:c.171_177del , LRG_322t1:c.171_177del NP_000542.1:p.Arg58GlyfsTer7
NM_198156.2:c.171_177del NP_937799.1:p.Arg58GlyfsTer7
XM_011534078.1:c.171_177del XP_011532380.1:p.Arg58GlyfsTer7
NM_001354723.1:c.171_177del NP_001341652.1:p.Arg58GlyfsTer7
NM_000551.4:c.171_177del MANE Select NP_000542.1:p.Arg58GlyfsTer7
NM_001354723.2:c.171_177del NP_001341652.1:p.Arg58GlyfsTer7
NM_198156.3:c.171_177del NP_937799.1:p.Arg58GlyfsTer7