Canonical Allele Identifier: CA645524883

Gene: VHL

Linked Data

• COSMIC: COSM3358442

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146521_10146522del , CM000665.2:g.10146521_10146522del	GRCh38
NC_000003.11:g.10188205_10188206del , CM000665.1:g.10188205_10188206del	GRCh37
NC_000003.10:g.10163205_10163206del	NCBI36
NG_008212.3:g.9887_9888del , LRG_322:g.9887_9888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*25_*26del	ENSP00000512434.1:n.*25_*26del
ENST00000696143.1:c.600-3266_600-3265del	ENSP00000512435.1:n.600-3266_600-3265del
ENST00000696153.1:c.348_349del	ENSP00000512444.1:p.Trp117AlafsTer14
ENST00000256474.3:c.348_349del MANE Select	ENSP00000256474.3:p.Trp117AlafsTer14
ENST00000256474.2:c.348_349del	ENSP00000256474.2:p.Trp117AlafsTer14
ENST00000345392.2:c.341-3266_341-3265del	ENSP00000344757.2:n.341-3266_341-3265del
ENST00000477538.1:n.484_485del
NM_000551.3:c.348_349del , LRG_322t1:c.348_349del	NP_000542.1:p.Trp117AlafsTer14
NM_198156.2:c.341-3266_341-3265del	NP_937799.1:n.341-3266_341-3265del
XM_011534078.1:c.*25_*26del	XP_011532380.1:n.*25_*26del
NM_001354723.1:c.*18-3266_*18-3265del	NP_001341652.1:n.*18-3266_*18-3265del
NM_000551.4:c.348_349del MANE Select	NP_000542.1:p.Trp117AlafsTer14
NM_001354723.2:c.*18-3266_*18-3265del	NP_001341652.1:n.*18-3266_*18-3265del
NM_198156.3:c.341-3266_341-3265del	NP_937799.1:n.341-3266_341-3265del