Canonical Allele Identifier: CA645524744
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM26602

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142083_10142088del , CM000665.2:g.10142083_10142088del GRCh38
NC_000003.11:g.10183767_10183772del , CM000665.1:g.10183767_10183772del GRCh37
NC_000003.10:g.10158767_10158772del NCBI36
NG_008212.3:g.5449_5454del , LRG_322:g.5449_5454del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.236_241del ENSP00000512434.1:p.Arg79_Ser80del
ENST00000696143.1:c.236_241del ENSP00000512435.1:p.Arg79_Ser80del
ENST00000696153.1:c.236_241del ENSP00000512444.1:p.Arg79_Ser80del
ENST00000256474.3:c.236_241del MANE Select ENSP00000256474.3:p.Arg79_Ser80del
ENST00000256474.2:c.236_241del ENSP00000256474.2:p.Arg79_Ser80del
ENST00000345392.2:c.236_241del ENSP00000344757.2:p.Arg79_Ser80del
NM_000551.3:c.236_241del , LRG_322t1:c.236_241del NP_000542.1:p.Arg79_Ser80del
NM_198156.2:c.236_241del NP_937799.1:p.Arg79_Ser80del
XM_011534078.1:c.236_241del XP_011532380.1:p.Arg79_Ser80del
NM_001354723.1:c.236_241del NP_001341652.1:p.Arg79_Ser80del
NM_000551.4:c.236_241del MANE Select NP_000542.1:p.Arg79_Ser80del
NM_001354723.2:c.236_241del NP_001341652.1:p.Arg79_Ser80del
NM_198156.3:c.236_241del NP_937799.1:p.Arg79_Ser80del