Canonical Allele Identifier: CA10602889

Gene: VHL

Linked Data

• ClinVar Variation Id: 280053
• ClinVar RCV Id: RCV000267121 ; RCV000767231 ; RCV001859534
• dbSNP Id: rs886041345
• MyVariant Identifiers: chr3:g.10183695_10183702dupAGGCCGGG (hg19) ; chr3:g.10142011_10142018dupAGGCCGGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142011_10142018dup , CM000665.2:g.10142011_10142018dup	GRCh38
NC_000003.11:g.10183695_10183702dup , CM000665.1:g.10183695_10183702dup	GRCh37
NC_000003.10:g.10158695_10158702dup	NCBI36
NG_008212.3:g.5377_5384dup , LRG_322:g.5377_5384dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.164_171dup	ENSP00000512434.1:p.Arg60GlyfsTer10
ENST00000696143.1:c.164_171dup	ENSP00000512435.1:p.Arg60GlyfsTer10
ENST00000696153.1:c.164_171dup	ENSP00000512444.1:p.Arg60GlyfsTer10
ENST00000256474.3:c.164_171dup MANE Select	ENSP00000256474.3:p.Arg60GlyfsTer10
ENST00000256474.2:c.164_171dup	ENSP00000256474.2:p.Arg60GlyfsTer10
ENST00000345392.2:c.164_171dup	ENSP00000344757.2:p.Arg60GlyfsTer10
NM_000551.3:c.164_171dup , LRG_322t1:c.164_171dup	NP_000542.1:p.Arg60GlyfsTer10
NM_198156.2:c.164_171dup	NP_937799.1:p.Arg60GlyfsTer10
XM_011534078.1:c.164_171dup	XP_011532380.1:p.Arg60GlyfsTer10
NM_001354723.1:c.164_171dup	NP_001341652.1:p.Arg60GlyfsTer10
NM_000551.4:c.164_171dup MANE Select	NP_000542.1:p.Arg60GlyfsTer10
NM_001354723.2:c.164_171dup	NP_001341652.1:p.Arg60GlyfsTer10
NM_198156.3:c.164_171dup	NP_937799.1:p.Arg60GlyfsTer10