Canonical Allele Identifier: CA645525056

Gene: VHL

Linked Data

• COSMIC: COSM18400

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149803dup , CM000665.2:g.10149803dup	GRCh38
NC_000003.11:g.10191487dup , CM000665.1:g.10191487dup	GRCh37
NC_000003.10:g.10166487dup	NCBI36
NG_008212.3:g.13169dup , LRG_322:g.13169dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*157dup	ENSP00000512434.1:n.*157dup
ENST00000696143.1:c.616dup	ENSP00000512435.1:n.616dup
ENST00000696153.1:c.591dup	ENSP00000512444.1:p.Arg198AlafsTer13
ENST00000256474.3:c.480dup MANE Select	ENSP00000256474.3:p.Arg161AlafsTer13
ENST00000256474.2:c.480dup	ENSP00000256474.2:p.Arg161AlafsTer13
ENST00000345392.2:c.357dup	ENSP00000344757.2:p.Arg120AlafsTer13
ENST00000477538.1:n.616dup
NM_000551.3:c.480dup , LRG_322t1:c.480dup	NP_000542.1:p.Arg161AlafsTer13
NM_198156.2:c.357dup	NP_937799.1:p.Arg120AlafsTer13
NM_001354723.1:c.*34dup	NP_001341652.1:n.*34dup
NM_000551.4:c.480dup MANE Select	NP_000542.1:p.Arg161AlafsTer13
NM_001354723.2:c.*34dup	NP_001341652.1:n.*34dup
NM_198156.3:c.357dup	NP_937799.1:p.Arg120AlafsTer13