Canonical Allele Identifier: CA432423544

Gene: VHL

Linked Data

• COSMIC: COSM249330
• MyVariant Identifiers: chr3:g.10191548del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149864del , CM000665.2:g.10149864del	GRCh38
NC_000003.11:g.10191548del , CM000665.1:g.10191548del	GRCh37
NC_000003.10:g.10166548del	NCBI36
NG_008212.3:g.13230del , LRG_322:g.13230del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*218del	ENSP00000512434.1:n.*218del
ENST00000696143.1:c.677del	ENSP00000512435.1:n.677del
ENST00000696153.1:c.652del	ENSP00000512444.1:p.Val218SerfsTer21
ENST00000256474.3:c.541del MANE Select	ENSP00000256474.3:p.Val181SerfsTer21
ENST00000256474.2:c.541del	ENSP00000256474.2:p.Val181SerfsTer21
ENST00000345392.2:c.418del	ENSP00000344757.2:p.Val140SerfsTer21
ENST00000477538.1:n.677del
NM_000551.3:c.541del , LRG_322t1:c.541del	NP_000542.1:p.Val181SerfsTer21
NM_198156.2:c.418del	NP_937799.1:p.Val140SerfsTer21
NM_001354723.1:c.*95del	NP_001341652.1:n.*95del
NM_000551.4:c.541del MANE Select	NP_000542.1:p.Val181SerfsTer21
NM_001354723.2:c.*95del	NP_001341652.1:n.*95del
NM_198156.3:c.418del	NP_937799.1:p.Val140SerfsTer21