Canonical Allele Identifier: CA645524892

Gene: VHL

Linked Data

• COSMIC: COSM30244

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146532_10146547del , CM000665.2:g.10146532_10146547del	GRCh38
NC_000003.11:g.10188216_10188231del , CM000665.1:g.10188216_10188231del	GRCh37
NC_000003.10:g.10163216_10163231del	NCBI36
NG_008212.3:g.9898_9913del , LRG_322:g.9898_9913del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*36_*51del	ENSP00000512434.1:n.*36_*51del
ENST00000696143.1:c.600-3255_600-3240del	ENSP00000512435.1:n.600-3255_600-3240del
ENST00000696153.1:c.359_374del	ENSP00000512444.1:p.Arg120ThrfsTer?
ENST00000256474.3:c.359_374del MANE Select	ENSP00000256474.3:p.Arg120ThrfsTer?
ENST00000256474.2:c.359_374del	ENSP00000256474.2:p.Arg120ThrfsTer?
ENST00000345392.2:c.341-3255_341-3240del	ENSP00000344757.2:n.341-3255_341-3240del
ENST00000477538.1:n.495_510del
NM_000551.3:c.359_374del , LRG_322t1:c.359_374del	NP_000542.1:p.Arg120ThrfsTer?
NM_198156.2:c.341-3255_341-3240del	NP_937799.1:n.341-3255_341-3240del
XM_011534078.1:c.*36_*51del	XP_011532380.1:n.*36_*51del
NM_001354723.1:c.*18-3255_*18-3240del	NP_001341652.1:n.*18-3255_*18-3240del
NM_000551.4:c.359_374del MANE Select	NP_000542.1:p.Arg120ThrfsTer?
NM_001354723.2:c.*18-3255_*18-3240del	NP_001341652.1:n.*18-3255_*18-3240del
NM_198156.3:c.341-3255_341-3240del	NP_937799.1:n.341-3255_341-3240del