Canonical Allele Identifier: CA916832609
Gene: VHL HGNC NCBI

Linked Data

dbSNP Id: rs1553619466

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142170_10142171del , CM000665.2:g.10142170_10142171del GRCh38
NC_000003.11:g.10183854_10183855del , CM000665.1:g.10183854_10183855del GRCh37
NC_000003.10:g.10158854_10158855del NCBI36
NG_008212.3:g.5536_5537del , LRG_322:g.5536_5537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.323_324del ENSP00000512434.1:p.Arg108HisfsTer?
ENST00000696143.1:c.323_324del ENSP00000512435.1:p.Arg108HisfsTer?
ENST00000696153.1:c.323_324del ENSP00000512444.1:p.Arg108HisfsTer23
ENST00000256474.3:c.323_324del MANE Select ENSP00000256474.3:p.Arg108HisfsTer23
ENST00000256474.2:c.323_324del ENSP00000256474.2:p.Arg108HisfsTer23
ENST00000345392.2:c.323_324del ENSP00000344757.2:p.Arg108HisfsTer24
NM_000551.3:c.323_324del , LRG_322t1:c.323_324del NP_000542.1:p.Arg108HisfsTer23
NM_198156.2:c.323_324del NP_937799.1:p.Arg108HisfsTer24
XM_011534078.1:c.323_324del XP_011532380.1:p.Arg108HisfsTer?
NM_001354723.1:c.323_324del NP_001341652.1:p.Arg108HisfsTer?
NM_000551.4:c.323_324del MANE Select NP_000542.1:p.Arg108HisfsTer23
NM_001354723.2:c.323_324del NP_001341652.1:p.Arg108HisfsTer?
NM_198156.3:c.323_324del NP_937799.1:p.Arg108HisfsTer24