Canonical Allele Identifier: CA896158074

Gene: VHL

Linked Data

• ClinVar Variation Id: 1493040
• ClinVar RCV Id: RCV001984066
• dbSNP Id: rs1301210563
• MyVariant Identifiers: chr3:g.10183571_10183575del (hg19) ; chr3:g.10141887_10141891del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10141889_10141893del , CM000665.2:g.10141889_10141893del	GRCh38
NC_000003.11:g.10183573_10183577del , CM000665.1:g.10183573_10183577del	GRCh37
NC_000003.10:g.10158573_10158577del	NCBI36
NG_008212.3:g.5255_5259del , LRG_322:g.5255_5259del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.42_46del	ENSP00000512434.1:p.Ala15GlyfsTer10
ENST00000696143.1:c.42_46del	ENSP00000512435.1:p.Ala15GlyfsTer10
ENST00000696153.1:c.42_46del	ENSP00000512444.1:p.Ala15GlyfsTer10
ENST00000256474.3:c.42_46del MANE Select	ENSP00000256474.3:p.Ala15GlyfsTer10
ENST00000256474.2:c.42_46del	ENSP00000256474.2:p.Ala15GlyfsTer10
ENST00000345392.2:c.42_46del	ENSP00000344757.2:p.Ala15GlyfsTer10
NM_000551.3:c.42_46del , LRG_322t1:c.42_46del	NP_000542.1:p.Ala15GlyfsTer10
NM_198156.2:c.42_46del	NP_937799.1:p.Ala15GlyfsTer10
XM_011534078.1:c.42_46del	XP_011532380.1:p.Ala15GlyfsTer10
NM_001354723.1:c.42_46del	NP_001341652.1:p.Ala15GlyfsTer10
NM_000551.4:c.42_46del MANE Select	NP_000542.1:p.Ala15GlyfsTer10
NM_001354723.2:c.42_46del	NP_001341652.1:p.Ala15GlyfsTer10
NM_198156.3:c.42_46del	NP_937799.1:p.Ala15GlyfsTer10