Canonical Allele Identifier: CA645524668
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM30384

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142029_10142034delinsTTTT , CM000665.2:g.10142029_10142034delinsTTTT GRCh38
NC_000003.11:g.10183713_10183718delinsTTTT , CM000665.1:g.10183713_10183718delinsTTTT GRCh37
NC_000003.10:g.10158713_10158718delinsTTTT NCBI36
NG_008212.3:g.5395_5400delinsTTTT , LRG_322:g.5395_5400delinsTTTT

Transcript Alleles

HGVS Amino-acid change
ENST00000696142.1:c.182_187delinsTTTT ENSP00000512434.1:p.Pro61LeufsTer?
ENST00000696143.1:c.182_187delinsTTTT ENSP00000512435.1:p.Pro61LeufsTer?
ENST00000696153.1:c.182_187delinsTTTT ENSP00000512444.1:p.Pro61LeufsTer?
ENST00000256474.3:c.182_187delinsTTTT MANE Select ENSP00000256474.3:p.Pro61LeufsTer?
ENST00000256474.2:c.182_187delinsTTTT ENSP00000256474.2:p.Pro61LeufsTer?
ENST00000345392.2:c.182_187delinsTTTT ENSP00000344757.2:p.Pro61LeufsTer?
NM_000551.3:c.182_187delinsTTTT , LRG_322t1:c.182_187delinsTTTT NP_000542.1:p.Pro61LeufsTer?
NM_198156.2:c.182_187delinsTTTT NP_937799.1:p.Pro61LeufsTer?
XM_011534078.1:c.182_187delinsTTTT XP_011532380.1:p.Pro61LeufsTer?
NM_001354723.1:c.182_187delinsTTTT NP_001341652.1:p.Pro61LeufsTer?
NM_000551.4:c.182_187delinsTTTT MANE Select NP_000542.1:p.Pro61LeufsTer?
NM_001354723.2:c.182_187delinsTTTT NP_001341652.1:p.Pro61LeufsTer?
NM_198156.3:c.182_187delinsTTTT NP_937799.1:p.Pro61LeufsTer?