Canonical Allele Identifier: CA357093

Gene: VHL

Linked Data

• ClinVar Variation Id: 223231
• ClinVar RCV Id: RCV000208835
• dbSNP Id: rs869025665
• COSMIC: COSM249414 ; COSM423210
• MyVariant Identifiers: chr3:g.10191553del (hg19) ; chr3:g.10191552del (hg19) ; chr3:g.10149869del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149869del , CM000665.2:g.10149869del	GRCh38
NC_000003.11:g.10191553del , CM000665.1:g.10191553del	GRCh37
NC_000003.10:g.10166553del	NCBI36
NG_008212.3:g.13235del , LRG_322:g.13235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*223del	ENSP00000512434.1:n.*223del
ENST00000696143.1:c.682del	ENSP00000512435.1:n.682del
ENST00000696153.1:c.657del	ENSP00000512444.1:p.Arg219SerfsTer20
ENST00000256474.3:c.546del MANE Select	ENSP00000256474.3:p.Arg182SerfsTer20
ENST00000256474.2:c.546del	ENSP00000256474.2:p.Arg182SerfsTer20
ENST00000345392.2:c.423del	ENSP00000344757.2:p.Arg141SerfsTer20
ENST00000477538.1:n.682del
NM_000551.3:c.546del , LRG_322t1:c.546del	NP_000542.1:p.Arg182SerfsTer20
NM_198156.2:c.423del	NP_937799.1:p.Arg141SerfsTer20
NM_001354723.1:c.*100del	NP_001341652.1:n.*100del
NM_000551.4:c.546del MANE Select	NP_000542.1:p.Arg182SerfsTer20
NM_001354723.2:c.*100del	NP_001341652.1:n.*100del
NM_198156.3:c.423del	NP_937799.1:p.Arg141SerfsTer20