Canonical Allele Identifier: CA645369327

Gene: VHL

Linked Data

• ClinVar Variation Id: 428805
• ClinVar RCV Id: RCV000492430
• dbSNP Id: rs1131690960
• MyVariant Identifiers: chr3:g.10183794_10183796dup (hg19) ; chr3:g.10142110_10142112dup (hg38)
• PubMed: PMID:12004076 ; PMID:23102223

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142110_10142112dup , CM000665.2:g.10142110_10142112dup	GRCh38
NC_000003.11:g.10183794_10183796dup , CM000665.1:g.10183794_10183796dup	GRCh37
NC_000003.10:g.10158794_10158796dup	NCBI36
NG_008212.3:g.5476_5478dup , LRG_322:g.5476_5478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.263_265dup	ENSP00000512434.1:p.Trp88_Leu89insArg
ENST00000696143.1:c.263_265dup	ENSP00000512435.1:p.Trp88_Leu89insArg
ENST00000696153.1:c.263_265dup	ENSP00000512444.1:p.Trp88_Leu89insArg
ENST00000256474.3:c.263_265dup MANE Select	ENSP00000256474.3:p.Trp88_Leu89insArg
ENST00000256474.2:c.263_265dup	ENSP00000256474.2:p.Trp88_Leu89insArg
ENST00000345392.2:c.263_265dup	ENSP00000344757.2:p.Trp88_Leu89insArg
NM_000551.3:c.263_265dup , LRG_322t1:c.263_265dup	NP_000542.1:p.Trp88_Leu89insArg
NM_198156.2:c.263_265dup	NP_937799.1:p.Trp88_Leu89insArg
XM_011534078.1:c.263_265dup	XP_011532380.1:p.Trp88_Leu89insArg
NM_001354723.1:c.263_265dup	NP_001341652.1:p.Trp88_Leu89insArg
NM_000551.4:c.263_265dup MANE Select	NP_000542.1:p.Trp88_Leu89insArg
NM_001354723.2:c.263_265dup	NP_001341652.1:p.Trp88_Leu89insArg
NM_198156.3:c.263_265dup	NP_937799.1:p.Trp88_Leu89insArg