Canonical Allele Identifier: CA432421804
Gene: VHL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10146534_10146535insT , CM000665.2:g.10146534_10146535insT GRCh38
NC_000003.11:g.10188218_10188219insT , CM000665.1:g.10188218_10188219insT GRCh37
NC_000003.10:g.10163218_10163219insT NCBI36
NG_008212.3:g.9900_9901insT , LRG_322:g.9900_9901insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.*38_*39insT ENSP00000512434.1:n.*38_*39insT
ENST00000696143.1:c.600-3253_600-3252insT ENSP00000512435.1:n.600-3253_600-3252insT
ENST00000696153.1:c.361_362insT ENSP00000512444.1:p.Asp121ValfsTer11
ENST00000256474.3:c.361_362insT MANE Select ENSP00000256474.3:p.Asp121ValfsTer11
ENST00000256474.2:c.361_362insT ENSP00000256474.2:p.Asp121ValfsTer11
ENST00000345392.2:c.341-3253_341-3252insT ENSP00000344757.2:n.341-3253_341-3252insT
ENST00000477538.1:n.497_498insT
NM_000551.3:c.361_362insT , LRG_322t1:c.361_362insT NP_000542.1:p.Asp121ValfsTer11
NM_198156.2:c.341-3253_341-3252insT NP_937799.1:n.341-3253_341-3252insT
XM_011534078.1:c.*38_*39insT XP_011532380.1:n.*38_*39insT
NM_001354723.1:c.*18-3253_*18-3252insT NP_001341652.1:n.*18-3253_*18-3252insT
NM_000551.4:c.361_362insT MANE Select NP_000542.1:p.Asp121ValfsTer11
NM_001354723.2:c.*18-3253_*18-3252insT NP_001341652.1:n.*18-3253_*18-3252insT
NM_198156.3:c.341-3253_341-3252insT NP_937799.1:n.341-3253_341-3252insT