Canonical Allele Identifier: CA357119

Gene: VHL

Linked Data

• ClinVar Variation Id: 223229
• ClinVar RCV Id: RCV000208854
• dbSNP Id: rs869025663
• MyVariant Identifiers: chr3:g.10191503_10191513del (hg19) ; chr3:g.10149819_10149829del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149819_10149829del , CM000665.2:g.10149819_10149829del	GRCh38
NC_000003.11:g.10191503_10191513del , CM000665.1:g.10191503_10191513del	GRCh37
NC_000003.10:g.10166503_10166513del	NCBI36
NG_008212.3:g.13185_13195del , LRG_322:g.13185_13195del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*173_*183del	ENSP00000512434.1:n.*173_*183del
ENST00000696143.1:c.632_642del	ENSP00000512435.1:n.632_642del
ENST00000696153.1:c.607_617del	ENSP00000512444.1:p.Val203SerfsTer4
ENST00000256474.3:c.496_506del MANE Select	ENSP00000256474.3:p.Val166SerfsTer4
ENST00000256474.2:c.496_506del	ENSP00000256474.2:p.Val166SerfsTer4
ENST00000345392.2:c.373_383del	ENSP00000344757.2:p.Val125SerfsTer4
ENST00000477538.1:n.632_642del
NM_000551.3:c.496_506del , LRG_322t1:c.496_506del	NP_000542.1:p.Val166SerfsTer4
NM_198156.2:c.373_383del	NP_937799.1:p.Val125SerfsTer4
NM_001354723.1:c.*50_*60del	NP_001341652.1:n.*50_*60del
NM_000551.4:c.496_506del MANE Select	NP_000542.1:p.Val166SerfsTer4
NM_001354723.2:c.*50_*60del	NP_001341652.1:n.*50_*60del
NM_198156.3:c.373_383del	NP_937799.1:p.Val125SerfsTer4