Canonical Allele Identifier: CA645524910

Gene: VHL

Linked Data

• COSMIC: COSM1666089

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146546_10146547insT , CM000665.2:g.10146546_10146547insT	GRCh38
NC_000003.11:g.10188230_10188231insT , CM000665.1:g.10188230_10188231insT	GRCh37
NC_000003.10:g.10163230_10163231insT	NCBI36
NG_008212.3:g.9912_9913insT , LRG_322:g.9912_9913insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*50_*51insT	ENSP00000512434.1:n.*50_*51insT
ENST00000696143.1:c.600-3241_600-3240insT	ENSP00000512435.1:n.600-3241_600-3240insT...
ENST00000696153.1:c.373_374insT	ENSP00000512444.1:p.His125LeufsTer7
ENST00000256474.3:c.373_374insT MANE Select	ENSP00000256474.3:p.His125LeufsTer7
ENST00000256474.2:c.373_374insT	ENSP00000256474.2:p.His125LeufsTer7
ENST00000345392.2:c.341-3241_341-3240insT	ENSP00000344757.2:n.341-3241_341-3240insT...
ENST00000477538.1:n.509_510insT
NM_000551.3:c.373_374insT , LRG_322t1:c.373_374insT	NP_000542.1:p.His125LeufsTer7
NM_198156.2:c.341-3241_341-3240insT	NP_937799.1:n.341-3241_341-3240insT
XM_011534078.1:c.*50_*51insT	XP_011532380.1:n.*50_*51insT
NM_001354723.1:c.*18-3241_*18-3240insT	NP_001341652.1:n.*18-3241_*18-3240insT
NM_000551.4:c.373_374insT MANE Select	NP_000542.1:p.His125LeufsTer7
NM_001354723.2:c.*18-3241_*18-3240insT	NP_001341652.1:n.*18-3241_*18-3240insT
NM_198156.3:c.341-3241_341-3240insT	NP_937799.1:n.341-3241_341-3240insT