Canonical Allele Identifier: CA2499216372

Gene: VHL

Linked Data

• ClinVar Variation Id: 997725
• ClinVar RCV Id: RCV001293282

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143206_10147086del , CM000665.2:g.10143206_10147086del	GRCh38
NC_000003.11:g.10184890_10188770del , CM000665.1:g.10184890_10188770del	GRCh37
NC_000003.10:g.10159890_10163770del	NCBI36
NG_008212.3:g.6572_10452del , LRG_322:g.6572_10452del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+185_*140+450del
ENST00000696143.1:c.599+185_600-2701del	ENSP00000512435.1:n.599+185_600-2701del
ENST00000696153.1:c.340+1019_463+450del
ENST00000256474.3:c.340+1019_463+450del
ENST00000256474.2:c.340+1019_463+450del
ENST00000345392.2:c.340+1019_341-2701del	ENSP00000344757.2:n.340+1019_341-2701del
ENST00000477538.1:n.476+185_599+450del
NM_000551.3:c.340+1019_463+450del , LRG_322t1:c.340+1019_463+450del
NM_198156.2:c.340+1019_341-2701del	NP_937799.1:n.340+1019_341-2701del
NM_001354723.1:c.*17+185_*18-2701del	NP_001341652.1:n.*17+185_*18-2701del
NM_000551.4:c.340+1019_463+450del
NM_001354723.2:c.*17+185_*18-2701del	NP_001341652.1:n.*17+185_*18-2701del
NM_198156.3:c.340+1019_341-2701del	NP_937799.1:n.340+1019_341-2701del