Canonical Allele Identifier: CA645529561

Gene: VHL

Linked Data

• COSMIC: COSM17801

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149889_10149892del , CM000665.2:g.10149889_10149892del	GRCh38
NC_000003.11:g.10191573_10191576del , CM000665.1:g.10191573_10191576del	GRCh37
NC_000003.10:g.10166573_10166576del	NCBI36
NG_008212.3:g.13255_13258del , LRG_322:g.13255_13258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*243_*246del	ENSP00000512434.1:n.*243_*246del
ENST00000696143.1:c.702_705del	ENSP00000512435.1:n.702_705del
ENST00000696153.1:c.677_680del	ENSP00000512444.1:p.Glu226AlafsTer12
ENST00000256474.3:c.566_569del MANE Select	ENSP00000256474.3:p.Glu189AlafsTer12
ENST00000256474.2:c.566_569del	ENSP00000256474.2:p.Glu189AlafsTer12
ENST00000345392.2:c.443_446del	ENSP00000344757.2:p.Glu148AlafsTer12
ENST00000477538.1:n.702_705del
NM_000551.3:c.566_569del , LRG_322t1:c.566_569del	NP_000542.1:p.Glu189AlafsTer12
NM_198156.2:c.443_446del	NP_937799.1:p.Glu148AlafsTer12
NM_001354723.1:c.*120_*123del	NP_001341652.1:n.*120_*123del
NM_000551.4:c.566_569del MANE Select	NP_000542.1:p.Glu189AlafsTer12
NM_001354723.2:c.*120_*123del	NP_001341652.1:n.*120_*123del
NM_198156.3:c.443_446del	NP_937799.1:p.Glu148AlafsTer12