Canonical Allele Identifier: CA2580068450

Gene: VHL

Linked Data

• ClinVar Variation Id: 2008476
• ClinVar RCV Id: RCV002828646

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142982del , CM000665.2:g.10142982del	GRCh38
NC_000003.11:g.10184666del , CM000665.1:g.10184666del	GRCh37
NC_000003.10:g.10159666del	NCBI36
NG_008212.3:g.6348del , LRG_322:g.6348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.560del	ENSP00000512434.1:p.Lys187ArgfsTer10
ENST00000696143.1:c.560del	ENSP00000512435.1:p.Lys187ArgfsTer10
ENST00000696153.1:c.340+795del	ENSP00000512444.1:n.340+795del
ENST00000256474.3:c.340+795del MANE Select	ENSP00000256474.3:n.340+795del
ENST00000256474.2:c.340+795del	ENSP00000256474.2:n.340+795del
ENST00000345392.2:c.340+795del	ENSP00000344757.2:n.340+795del
ENST00000477538.1:n.437del
NM_000551.3:c.340+795del , LRG_322t1:c.340+795del	NP_000542.1:n.340+795del
NM_198156.2:c.340+795del	NP_937799.1:n.340+795del
XM_011534078.1:c.560del	XP_011532380.1:p.Lys187ArgfsTer10
NM_001354723.1:c.560del	NP_001341652.1:p.Lys187ArgfsTer10
NM_000551.4:c.340+795del MANE Select	NP_000542.1:n.340+795del
NM_001354723.2:c.560del	NP_001341652.1:p.Lys187ArgfsTer10
NM_198156.3:c.340+795del	NP_937799.1:n.340+795del