Canonical Allele Identifier: CA357022

Gene: VHL

Linked Data

• ClinVar Variation Id: 223230
• ClinVar RCV Id: RCV000208795 ; RCV000805034
• dbSNP Id: rs869025664
• MyVariant Identifiers: chr3:g.10191547_10191550del (hg19) ; chr3:g.10149863_10149866del (hg38)
• CIViC: CA357022

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149863_10149866del , CM000665.2:g.10149863_10149866del	GRCh38
NC_000003.11:g.10191547_10191550del , CM000665.1:g.10191547_10191550del	GRCh37
NC_000003.10:g.10166547_10166550del	NCBI36
NG_008212.3:g.13229_13232del , LRG_322:g.13229_13232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*217_*220del	ENSP00000512434.1:n.*217_*220del
ENST00000696143.1:c.676_679del	ENSP00000512435.1:n.676_679del
ENST00000696153.1:c.651_654del	ENSP00000512444.1:p.Val218GlyfsTer20
ENST00000256474.3:c.540_543del MANE Select	ENSP00000256474.3:p.Val181GlyfsTer20
ENST00000256474.2:c.540_543del	ENSP00000256474.2:p.Val181GlyfsTer20
ENST00000345392.2:c.417_420del	ENSP00000344757.2:p.Val140GlyfsTer20
ENST00000477538.1:n.676_679del
NM_000551.3:c.540_543del , LRG_322t1:c.540_543del	NP_000542.1:p.Val181GlyfsTer20
NM_198156.2:c.417_420del	NP_937799.1:p.Val140GlyfsTer20
NM_001354723.1:c.*94_*97del	NP_001341652.1:n.*94_*97del
NM_000551.4:c.540_543del MANE Select	NP_000542.1:p.Val181GlyfsTer20
NM_001354723.2:c.*94_*97del	NP_001341652.1:n.*94_*97del
NM_198156.3:c.417_420del	NP_937799.1:p.Val140GlyfsTer20