Canonical Allele Identifier: CA432423464

Gene: VHL

Linked Data

• COSMIC: COSM17790
• MyVariant Identifiers: chr3:g.10191536del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149852del , CM000665.2:g.10149852del	GRCh38
NC_000003.11:g.10191536del , CM000665.1:g.10191536del	GRCh37
NC_000003.10:g.10166536del	NCBI36
NG_008212.3:g.13218del , LRG_322:g.13218del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*206del	ENSP00000512434.1:n.*206del
ENST00000696143.1:c.665del	ENSP00000512435.1:n.665del
ENST00000696153.1:c.640del	ENSP00000512444.1:p.Arg214AspfsTer25
ENST00000256474.3:c.529del MANE Select	ENSP00000256474.3:p.Arg177AspfsTer25
ENST00000256474.2:c.529del	ENSP00000256474.2:p.Arg177AspfsTer25
ENST00000345392.2:c.406del	ENSP00000344757.2:p.Arg136AspfsTer25
ENST00000477538.1:n.665del
NM_000551.3:c.529del , LRG_322t1:c.529del	NP_000542.1:p.Arg177AspfsTer25
NM_198156.2:c.406del	NP_937799.1:p.Arg136AspfsTer25
NM_001354723.1:c.*83del	NP_001341652.1:n.*83del
NM_000551.4:c.529del MANE Select	NP_000542.1:p.Arg177AspfsTer25
NM_001354723.2:c.*83del	NP_001341652.1:n.*83del
NM_198156.3:c.406del	NP_937799.1:p.Arg136AspfsTer25