Canonical Allele Identifier: CA645509027

Gene: VHL

Linked Data

• ClinVar Variation Id: 625259
• ClinVar RCV Id: RCV000767286 ; RCV002343616 ; RCV002536594
• dbSNP Id: rs1559429736
• COSMIC: COSM17919

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149856_10149857del , CM000665.2:g.10149856_10149857del	GRCh38
NC_000003.11:g.10191540_10191541del , CM000665.1:g.10191540_10191541del	GRCh37
NC_000003.10:g.10166540_10166541del	NCBI36
NG_008212.3:g.13222_13223del , LRG_322:g.13222_13223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*210_*211del	ENSP00000512434.1:n.*210_*211del
ENST00000696143.1:c.669_670del	ENSP00000512435.1:n.669_670del
ENST00000696153.1:c.644_645del	ENSP00000512444.1:p.Leu215ArgfsTer?
ENST00000256474.3:c.533_534del MANE Select	ENSP00000256474.3:p.Leu178ArgfsTer?
ENST00000256474.2:c.533_534del	ENSP00000256474.2:p.Leu178ArgfsTer?
ENST00000345392.2:c.410_411del	ENSP00000344757.2:p.Leu137ArgfsTer?
ENST00000477538.1:n.669_670del
NM_000551.3:c.533_534del , LRG_322t1:c.533_534del	NP_000542.1:p.Leu178ArgfsTer?
NM_198156.2:c.410_411del	NP_937799.1:p.Leu137ArgfsTer?
NM_001354723.1:c.*87_*88del	NP_001341652.1:n.*87_*88del
NM_000551.4:c.533_534del MANE Select	NP_000542.1:p.Leu178ArgfsTer?
NM_001354723.2:c.*87_*88del	NP_001341652.1:n.*87_*88del
NM_198156.3:c.410_411del	NP_937799.1:p.Leu137ArgfsTer?