Canonical Allele Identifier: CA645524769
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM17659

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142098_10142107del , CM000665.2:g.10142098_10142107del GRCh38
NC_000003.11:g.10183782_10183791del , CM000665.1:g.10183782_10183791del GRCh37
NC_000003.10:g.10158782_10158791del NCBI36
NG_008212.3:g.5464_5473del , LRG_322:g.5464_5473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.251_260del ENSP00000512434.1:p.Val84AspfsTer30
ENST00000696143.1:c.251_260del ENSP00000512435.1:p.Val84AspfsTer30
ENST00000696153.1:c.251_260del ENSP00000512444.1:p.Val84AspfsTer?
ENST00000256474.3:c.251_260del MANE Select ENSP00000256474.3:p.Val84AspfsTer?
ENST00000256474.2:c.251_260del ENSP00000256474.2:p.Val84AspfsTer?
ENST00000345392.2:c.251_260del ENSP00000344757.2:p.Val84AspfsTer?
NM_000551.3:c.251_260del , LRG_322t1:c.251_260del NP_000542.1:p.Val84AspfsTer?
NM_198156.2:c.251_260del NP_937799.1:p.Val84AspfsTer?
XM_011534078.1:c.251_260del XP_011532380.1:p.Val84AspfsTer30
NM_001354723.1:c.251_260del NP_001341652.1:p.Val84AspfsTer30
NM_000551.4:c.251_260del MANE Select NP_000542.1:p.Val84AspfsTer?
NM_001354723.2:c.251_260del NP_001341652.1:p.Val84AspfsTer30
NM_198156.3:c.251_260del NP_937799.1:p.Val84AspfsTer?