Canonical Allele Identifier: CA645525060

Gene: VHL

Linked Data

• COSMIC: COSM1169450

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149806_10149814del , CM000665.2:g.10149806_10149814del	GRCh38
NC_000003.11:g.10191490_10191498del , CM000665.1:g.10191490_10191498del	GRCh37
NC_000003.10:g.10166490_10166498del	NCBI36
NG_008212.3:g.13172_13180del , LRG_322:g.13172_13180del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*160_*168del	ENSP00000512434.1:n.*160_*168del
ENST00000696143.1:c.619_627del	ENSP00000512435.1:n.619_627del
ENST00000696153.1:c.594_602del	ENSP00000512444.1:p.Cys199_Gln201del
ENST00000256474.3:c.483_491del MANE Select	ENSP00000256474.3:p.Cys162_Gln164del
ENST00000256474.2:c.483_491del	ENSP00000256474.2:p.Cys162_Gln164del
ENST00000345392.2:c.360_368del	ENSP00000344757.2:p.Cys121_Gln123del
ENST00000477538.1:n.619_627del
NM_000551.3:c.483_491del , LRG_322t1:c.483_491del	NP_000542.1:p.Cys162_Gln164del
NM_198156.2:c.360_368del	NP_937799.1:p.Cys121_Gln123del
NM_001354723.1:c.*37_*45del	NP_001341652.1:n.*37_*45del
NM_000551.4:c.483_491del MANE Select	NP_000542.1:p.Cys162_Gln164del
NM_001354723.2:c.*37_*45del	NP_001341652.1:n.*37_*45del
NM_198156.3:c.360_368del	NP_937799.1:p.Cys121_Gln123del