Canonical Allele Identifier: CA432421841
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146564_10146565insT , CM000665.2:g.10146564_10146565insT GRCh38
NC_000003.11:g.10188248_10188249insT , CM000665.1:g.10188248_10188249insT GRCh37
NC_000003.10:g.10163248_10163249insT NCBI36
NG_008212.3:g.9930_9931insT , LRG_322:g.9930_9931insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*68_*69insT ENSP00000512434.1:n.*68_*69insT
ENST00000696143.1:c.600-3223_600-3222insT ENSP00000512435.1:n.600-3223_600-3222insT
ENST00000696153.1:c.391_392insT ENSP00000512444.1:p.Asn131IlefsTer4
ENST00000256474.3:c.391_392insT MANE Select ENSP00000256474.3:p.Asn131IlefsTer4
ENST00000256474.2:c.391_392insT ENSP00000256474.2:p.Asn131IlefsTer4
ENST00000345392.2:c.341-3223_341-3222insT ENSP00000344757.2:n.341-3223_341-3222insT
ENST00000477538.1:n.527_528insT
NM_000551.3:c.391_392insT , LRG_322t1:c.391_392insT NP_000542.1:p.Asn131IlefsTer4
NM_198156.2:c.341-3223_341-3222insT NP_937799.1:n.341-3223_341-3222insT
XM_011534078.1:c.*68_*69insT XP_011532380.1:n.*68_*69insT
NM_001354723.1:c.*18-3223_*18-3222insT NP_001341652.1:n.*18-3223_*18-3222insT
NM_000551.4:c.391_392insT MANE Select NP_000542.1:p.Asn131IlefsTer4
NM_001354723.2:c.*18-3223_*18-3222insT NP_001341652.1:n.*18-3223_*18-3222insT
NM_198156.3:c.341-3223_341-3222insT NP_937799.1:n.341-3223_341-3222insT