Canonical Allele Identifier: CA2580614138

Gene: VHL

Linked Data

• ClinVar Variation Id: 2474533
• ClinVar RCV Id: RCV003203225

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142004_10142006del , CM000665.2:g.10142004_10142006del	GRCh38
NC_000003.11:g.10183688_10183690del , CM000665.1:g.10183688_10183690del	GRCh37
NC_000003.10:g.10158688_10158690del	NCBI36
NG_008212.3:g.5370_5372del , LRG_322:g.5370_5372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.157_159del	ENSP00000512434.1:p.Glu53del
ENST00000696143.1:c.157_159del	ENSP00000512435.1:p.Glu53del
ENST00000696153.1:c.157_159del	ENSP00000512444.1:p.Glu53del
ENST00000256474.3:c.157_159del MANE Select	ENSP00000256474.3:p.Glu53del
ENST00000256474.2:c.157_159del	ENSP00000256474.2:p.Glu53del
ENST00000345392.2:c.157_159del	ENSP00000344757.2:p.Glu53del
NM_000551.3:c.157_159del , LRG_322t1:c.157_159del	NP_000542.1:p.Glu53del
NM_198156.2:c.157_159del	NP_937799.1:p.Glu53del
XM_011534078.1:c.157_159del	XP_011532380.1:p.Glu53del
NM_001354723.1:c.157_159del	NP_001341652.1:p.Glu53del
NM_000551.4:c.157_159del MANE Select	NP_000542.1:p.Glu53del
NM_001354723.2:c.157_159del	NP_001341652.1:p.Glu53del
NM_198156.3:c.157_159del	NP_937799.1:p.Glu53del