Canonical Allele Identifier: CA645525088

Gene: VHL

Linked Data

• COSMIC: COSM253384

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149840_10149845del , CM000665.2:g.10149840_10149845del	GRCh38
NC_000003.11:g.10191524_10191529del , CM000665.1:g.10191524_10191529del	GRCh37
NC_000003.10:g.10166524_10166529del	NCBI36
NG_008212.3:g.13206_13211del , LRG_322:g.13206_13211del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*194_*199del	ENSP00000512434.1:n.*194_*199del
ENST00000696143.1:c.653_658del	ENSP00000512435.1:n.653_658del
ENST00000696153.1:c.628_633del	ENSP00000512444.1:p.Glu210_Asn211del
ENST00000256474.3:c.517_522del MANE Select	ENSP00000256474.3:p.Glu173_Asn174del
ENST00000256474.2:c.517_522del	ENSP00000256474.2:p.Glu173_Asn174del
ENST00000345392.2:c.394_399del	ENSP00000344757.2:p.Glu132_Asn133del
ENST00000477538.1:n.653_658del
NM_000551.3:c.517_522del , LRG_322t1:c.517_522del	NP_000542.1:p.Glu173_Asn174del
NM_198156.2:c.394_399del	NP_937799.1:p.Glu132_Asn133del
NM_001354723.1:c.*71_*76del	NP_001341652.1:n.*71_*76del
NM_000551.4:c.517_522del MANE Select	NP_000542.1:p.Glu173_Asn174del
NM_001354723.2:c.*71_*76del	NP_001341652.1:n.*71_*76del
NM_198156.3:c.394_399del	NP_937799.1:p.Glu132_Asn133del