Canonical Allele Identifier: CA645529519

Gene: VHL

Linked Data

• COSMIC: COSM25693

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149849_10149855del , CM000665.2:g.10149849_10149855del	GRCh38
NC_000003.11:g.10191533_10191539del , CM000665.1:g.10191533_10191539del	GRCh37
NC_000003.10:g.10166533_10166539del	NCBI36
NG_008212.3:g.13215_13221del , LRG_322:g.13215_13221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*203_*209del	ENSP00000512434.1:n.*203_*209del
ENST00000696143.1:c.662_668del	ENSP00000512435.1:n.662_668del
ENST00000696153.1:c.637_643del	ENSP00000512444.1:p.Arg213TrpfsTer24
ENST00000256474.3:c.526_532del MANE Select	ENSP00000256474.3:p.Arg176TrpfsTer24
ENST00000256474.2:c.526_532del	ENSP00000256474.2:p.Arg176TrpfsTer24
ENST00000345392.2:c.403_409del	ENSP00000344757.2:p.Arg135TrpfsTer24
ENST00000477538.1:n.662_668del
NM_000551.3:c.526_532del , LRG_322t1:c.526_532del	NP_000542.1:p.Arg176TrpfsTer24
NM_198156.2:c.403_409del	NP_937799.1:p.Arg135TrpfsTer24
NM_001354723.1:c.*80_*86del	NP_001341652.1:n.*80_*86del
NM_000551.4:c.526_532del MANE Select	NP_000542.1:p.Arg176TrpfsTer24
NM_001354723.2:c.*80_*86del	NP_001341652.1:n.*80_*86del
NM_198156.3:c.403_409del	NP_937799.1:p.Arg135TrpfsTer24