Canonical Allele Identifier: CA645524782
Gene: VHL HGNC NCBI

Linked Data

COSMIC: COSM253349

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.10142112_10142121del , CM000665.2:g.10142112_10142121del GRCh38
NC_000003.11:g.10183796_10183805del , CM000665.1:g.10183796_10183805del GRCh37
NC_000003.10:g.10158796_10158805del NCBI36
NG_008212.3:g.5478_5487del , LRG_322:g.5478_5487del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696142.1:c.265_274del ENSP00000512434.1:p.Leu89ThrfsTer25
ENST00000696143.1:c.265_274del ENSP00000512435.1:p.Leu89ThrfsTer25
ENST00000696153.1:c.265_274del ENSP00000512444.1:p.Leu89ThrfsTer?
ENST00000256474.3:c.265_274del MANE Select ENSP00000256474.3:p.Leu89ThrfsTer?
ENST00000256474.2:c.265_274del ENSP00000256474.2:p.Leu89ThrfsTer?
ENST00000345392.2:c.265_274del ENSP00000344757.2:p.Leu89ThrfsTer26
NM_000551.3:c.265_274del , LRG_322t1:c.265_274del NP_000542.1:p.Leu89ThrfsTer?
NM_198156.2:c.265_274del NP_937799.1:p.Leu89ThrfsTer26
XM_011534078.1:c.265_274del XP_011532380.1:p.Leu89ThrfsTer25
NM_001354723.1:c.265_274del NP_001341652.1:p.Leu89ThrfsTer25
NM_000551.4:c.265_274del MANE Select NP_000542.1:p.Leu89ThrfsTer?
NM_001354723.2:c.265_274del NP_001341652.1:p.Leu89ThrfsTer25
NM_198156.3:c.265_274del NP_937799.1:p.Leu89ThrfsTer26