Canonical Allele Identifier: CA357054

Gene: VHL

Linked Data

• ClinVar Variation Id: 223204
• ClinVar RCV Id: RCV000208816
• dbSNP Id: rs869025646
• COSMIC: COSM30353 ; COSM253368 ; COSM1665852
• MyVariant Identifiers: chr3:g.10188259del (hg19) ; chr3:g.10188258del (hg19) ; chr3:g.10146575del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146575del , CM000665.2:g.10146575del	GRCh38
NC_000003.11:g.10188259del , CM000665.1:g.10188259del	GRCh37
NC_000003.10:g.10163259del	NCBI36
NG_008212.3:g.9941del , LRG_322:g.9941del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*79del	ENSP00000512434.1:n.*79del
ENST00000696143.1:c.600-3212del	ENSP00000512435.1:n.600-3212del
ENST00000696153.1:c.402del	ENSP00000512444.1:p.Glu134AspfsTer?
ENST00000256474.3:c.402del MANE Select	ENSP00000256474.3:p.Glu134AspfsTer25
ENST00000256474.2:c.402del	ENSP00000256474.2:p.Glu134AspfsTer25
ENST00000345392.2:c.341-3212del	ENSP00000344757.2:n.341-3212del
ENST00000477538.1:n.538del
NM_000551.3:c.402del , LRG_322t1:c.402del	NP_000542.1:p.Glu134AspfsTer25
NM_198156.2:c.341-3212del	NP_937799.1:n.341-3212del
XM_011534078.1:c.*79del	XP_011532380.1:n.*79del
NM_001354723.1:c.*18-3212del	NP_001341652.1:n.*18-3212del
NM_000551.4:c.402del MANE Select	NP_000542.1:p.Glu134AspfsTer25
NM_001354723.2:c.*18-3212del	NP_001341652.1:n.*18-3212del
NM_198156.3:c.341-3212del	NP_937799.1:n.341-3212del