Canonical Allele Identifier: CA645524847
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM30323

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142168_10142169insTTCG , CM000665.2:g.10142168_10142169insTTCG GRCh38
NC_000003.11:g.10183852_10183853insTTCG , CM000665.1:g.10183852_10183853insTTCG GRCh37
NC_000003.10:g.10158852_10158853insTTCG NCBI36
NG_008212.3:g.5534_5535insTTCG , LRG_322:g.5534_5535insTTCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.321_322insTTCG ENSP00000512434.1:p.Arg108PhefsTer?
ENST00000696143.1:c.321_322insTTCG ENSP00000512435.1:p.Arg108PhefsTer?
ENST00000696153.1:c.321_322insTTCG ENSP00000512444.1:p.Arg108PhefsTer25
ENST00000256474.3:c.321_322insTTCG MANE Select ENSP00000256474.3:p.Arg108PhefsTer25
ENST00000256474.2:c.321_322insTTCG ENSP00000256474.2:p.Arg108PhefsTer25
ENST00000345392.2:c.321_322insTTCG ENSP00000344757.2:p.Arg108PhefsTer26
NM_000551.3:c.321_322insTTCG , LRG_322t1:c.321_322insTTCG NP_000542.1:p.Arg108PhefsTer25
NM_198156.2:c.321_322insTTCG NP_937799.1:p.Arg108PhefsTer26
XM_011534078.1:c.321_322insTTCG XP_011532380.1:p.Arg108PhefsTer?
NM_001354723.1:c.321_322insTTCG NP_001341652.1:p.Arg108PhefsTer?
NM_000551.4:c.321_322insTTCG MANE Select NP_000542.1:p.Arg108PhefsTer25
NM_001354723.2:c.321_322insTTCG NP_001341652.1:p.Arg108PhefsTer?
NM_198156.3:c.321_322insTTCG NP_937799.1:p.Arg108PhefsTer26