Canonical Allele Identifier: CA645524846
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM53184

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142171_10142185del , CM000665.2:g.10142171_10142185del GRCh38
NC_000003.11:g.10183855_10183869del , CM000665.1:g.10183855_10183869del GRCh37
NC_000003.10:g.10158855_10158869del NCBI36
NG_008212.3:g.5537_5551del , LRG_322:g.5537_5551del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.324_338del ENSP00000512434.1:p.Ile109_Arg113del
ENST00000696143.1:c.324_338del ENSP00000512435.1:p.Ile109_Arg113del
ENST00000696153.1:c.324_338del ENSP00000512444.1:p.Ile109_Arg113del
ENST00000256474.3:c.324_338del MANE Select ENSP00000256474.3:p.Ile109_Arg113del
ENST00000256474.2:c.324_338del ENSP00000256474.2:p.Ile109_Arg113del
ENST00000345392.2:c.324_338del ENSP00000344757.2:p.Ile109_Arg113del
NM_000551.3:c.324_338del , LRG_322t1:c.324_338del NP_000542.1:p.Ile109_Arg113del
NM_198156.2:c.324_338del NP_937799.1:p.Ile109_Arg113del
XM_011534078.1:c.324_338del XP_011532380.1:p.Ile109_Arg113del
NM_001354723.1:c.324_338del NP_001341652.1:p.Ile109_Arg113del
NM_000551.4:c.324_338del MANE Select NP_000542.1:p.Ile109_Arg113del
NM_001354723.2:c.324_338del NP_001341652.1:p.Ile109_Arg113del
NM_198156.3:c.324_338del NP_937799.1:p.Ile109_Arg113del