Canonical Allele Identifier: CA432423646

Gene: VHL

Linked Data

• COSMIC: COSM36336
• MyVariant Identifiers: chr3:g.10191565del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149881del , CM000665.2:g.10149881del	GRCh38
NC_000003.11:g.10191565del , CM000665.1:g.10191565del	GRCh37
NC_000003.10:g.10166565del	NCBI36
NG_008212.3:g.13247del , LRG_322:g.13247del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*235del	ENSP00000512434.1:n.*235del
ENST00000696143.1:c.694del	ENSP00000512435.1:n.694del
ENST00000696153.1:c.669del	ENSP00000512444.1:p.Asp224IlefsTer15
ENST00000256474.3:c.558del MANE Select	ENSP00000256474.3:p.Asp187IlefsTer15
ENST00000256474.2:c.558del	ENSP00000256474.2:p.Asp187IlefsTer15
ENST00000345392.2:c.435del	ENSP00000344757.2:p.Asp146IlefsTer15
ENST00000477538.1:n.694del
NM_000551.3:c.558del , LRG_322t1:c.558del	NP_000542.1:p.Asp187IlefsTer15
NM_198156.2:c.435del	NP_937799.1:p.Asp146IlefsTer15
NM_001354723.1:c.*112del	NP_001341652.1:n.*112del
NM_000551.4:c.558del MANE Select	NP_000542.1:p.Asp187IlefsTer15
NM_001354723.2:c.*112del	NP_001341652.1:n.*112del
NM_198156.3:c.435del	NP_937799.1:p.Asp146IlefsTer15