Canonical Allele Identifier: CA020525

Gene: VHL

Linked Data

• ClinVar Variation Id: 182971
• ClinVar RCV Id: RCV000161075 ; RCV003765008
• dbSNP Id: rs730882030
• COSMIC: COSM249403
• MyVariant Identifiers: chr3:g.10191621_10191622del (hg19) ; chr3:g.10149937_10149938del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149937_10149938del , CM000665.2:g.10149937_10149938del	GRCh38
NC_000003.11:g.10191621_10191622del , CM000665.1:g.10191621_10191622del	GRCh37
NC_000003.10:g.10166621_10166622del	NCBI36
NG_008212.3:g.13303_13304del , LRG_322:g.13303_13304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*291_*292del	ENSP00000512434.1:n.*291_*292del
ENST00000696143.1:c.750_751del	ENSP00000512435.1:n.750_751del
ENST00000696153.1:c.725_726del	ENSP00000512444.1:p.Arg242HisfsTer?
ENST00000256474.3:c.614_615del MANE Select	ENSP00000256474.3:p.Arg205HisfsTer?
ENST00000256474.2:c.614_615del	ENSP00000256474.2:p.Arg205HisfsTer?
ENST00000345392.2:c.491_492del	ENSP00000344757.2:p.Arg164HisfsTer?
ENST00000477538.1:n.750_751del
NM_000551.3:c.614_615del , LRG_322t1:c.614_615del	NP_000542.1:p.Arg205HisfsTer?
NM_198156.2:c.491_492del	NP_937799.1:p.Arg164HisfsTer?
NM_001354723.1:c.*168_*169del	NP_001341652.1:n.*168_*169del
NM_000551.4:c.614_615del MANE Select	NP_000542.1:p.Arg205HisfsTer?
NM_001354723.2:c.*168_*169del	NP_001341652.1:n.*168_*169del
NM_198156.3:c.491_492del	NP_937799.1:p.Arg164HisfsTer?