Canonical Allele Identifier: CA432423273

Gene: VHL

Linked Data

• COSMIC: COSM17676
• MyVariant Identifiers: chr3:g.10191505del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149822del , CM000665.2:g.10149822del	GRCh38
NC_000003.11:g.10191506del , CM000665.1:g.10191506del	GRCh37
NC_000003.10:g.10166506del	NCBI36
NG_008212.3:g.13188del , LRG_322:g.13188del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*176del	ENSP00000512434.1:n.*176del
ENST00000696143.1:c.635del	ENSP00000512435.1:n.635del
ENST00000696153.1:c.610del	ENSP00000512444.1:p.Arg204GlyfsTer3
ENST00000256474.3:c.499del MANE Select	ENSP00000256474.3:p.Arg167GlyfsTer3
ENST00000256474.2:c.499del	ENSP00000256474.2:p.Arg167GlyfsTer3
ENST00000345392.2:c.376del	ENSP00000344757.2:p.Arg126GlyfsTer3
ENST00000477538.1:n.635del
NM_000551.3:c.499del , LRG_322t1:c.499del	NP_000542.1:p.Arg167GlyfsTer3
NM_198156.2:c.376del	NP_937799.1:p.Arg126GlyfsTer3
NM_001354723.1:c.*53del	NP_001341652.1:n.*53del
NM_000551.4:c.499del MANE Select	NP_000542.1:p.Arg167GlyfsTer3
NM_001354723.2:c.*53del	NP_001341652.1:n.*53del
NM_198156.3:c.376del	NP_937799.1:p.Arg126GlyfsTer3