Canonical Allele Identifier: CA645525067

Gene: VHL

Linked Data

• COSMIC: COSM1169456

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149815_10149816del , CM000665.2:g.10149815_10149816del	GRCh38
NC_000003.11:g.10191499_10191500del , CM000665.1:g.10191499_10191500del	GRCh37
NC_000003.10:g.10166499_10166500del	NCBI36
NG_008212.3:g.13181_13182del , LRG_322:g.13181_13182del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*169_*170del	ENSP00000512434.1:n.*169_*170del
ENST00000696143.1:c.628_629del	ENSP00000512435.1:n.628_629del
ENST00000696153.1:c.603_604del	ENSP00000512444.1:p.Gln201HisfsTer9
ENST00000256474.3:c.492_493del MANE Select	ENSP00000256474.3:p.Gln164HisfsTer9
ENST00000256474.2:c.492_493del	ENSP00000256474.2:p.Gln164HisfsTer9
ENST00000345392.2:c.369_370del	ENSP00000344757.2:p.Gln123HisfsTer9
ENST00000477538.1:n.628_629del
NM_000551.3:c.492_493del , LRG_322t1:c.492_493del	NP_000542.1:p.Gln164HisfsTer9
NM_198156.2:c.369_370del	NP_937799.1:p.Gln123HisfsTer9
NM_001354723.1:c.*46_*47del	NP_001341652.1:n.*46_*47del
NM_000551.4:c.492_493del MANE Select	NP_000542.1:p.Gln164HisfsTer9
NM_001354723.2:c.*46_*47del	NP_001341652.1:n.*46_*47del
NM_198156.3:c.369_370del	NP_937799.1:p.Gln123HisfsTer9