Canonical Allele Identifier: CA2499307020
Gene: VHL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146550_10146551insG , CM000665.2:g.10146550_10146551insG GRCh38
NC_000003.11:g.10188234_10188235insG , CM000665.1:g.10188234_10188235insG GRCh37
NC_000003.10:g.10163234_10163235insG NCBI36
NG_008212.3:g.9916_9917insG , LRG_322:g.9916_9917insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*54_*55insG ENSP00000512434.1:n.*54_*55insG
ENST00000696143.1:c.600-3237_600-3236insG ENSP00000512435.1:n.600-3237_600-3236insG
ENST00000696153.1:c.377_378insG ENSP00000512444.1:p.Asp126GlufsTer6
ENST00000256474.3:c.377_378insG MANE Select ENSP00000256474.3:p.Asp126GlufsTer6
ENST00000256474.2:c.377_378insG ENSP00000256474.2:p.Asp126GlufsTer6
ENST00000345392.2:c.341-3237_341-3236insG ENSP00000344757.2:n.341-3237_341-3236insG
ENST00000477538.1:n.513_514insG
NM_000551.3:c.377_378insG , LRG_322t1:c.377_378insG NP_000542.1:p.Asp126GlufsTer6
NM_198156.2:c.341-3237_341-3236insG NP_937799.1:n.341-3237_341-3236insG
XM_011534078.1:c.*54_*55insG XP_011532380.1:n.*54_*55insG
NM_001354723.1:c.*18-3237_*18-3236insG NP_001341652.1:n.*18-3237_*18-3236insG
NM_000551.4:c.377_378insG MANE Select NP_000542.1:p.Asp126GlufsTer6
NM_001354723.2:c.*18-3237_*18-3236insG NP_001341652.1:n.*18-3237_*18-3236insG
NM_198156.3:c.341-3237_341-3236insG NP_937799.1:n.341-3237_341-3236insG