Canonical Allele Identifier: CA2499216374

Gene: VHL

Linked Data

• ClinVar Variation Id: 997727
• ClinVar RCV Id: RCV001293284

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143767_10148310del , CM000665.2:g.10143767_10148310del	GRCh38
NC_000003.11:g.10185451_10189994del , CM000665.1:g.10185451_10189994del	GRCh37
NC_000003.10:g.10160451_10164994del	NCBI36
NG_008212.3:g.7133_11676del , LRG_322:g.7133_11676del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+746_*141-1477del
ENST00000696143.1:c.599+746_600-1477del	ENSP00000512435.1:n.599+746_600-1477del
ENST00000696153.1:c.340+1580_464-394del
ENST00000256474.3:c.340+1580_464-1477del
ENST00000256474.2:c.340+1580_464-1477del
ENST00000345392.2:c.340+1580_341-1477del	ENSP00000344757.2:n.340+1580_341-1477del
ENST00000477538.1:n.476+746_600-1477del
NM_000551.3:c.340+1580_464-1477del , LRG_322t1:c.340+1580_464-1477del
NM_198156.2:c.340+1580_341-1477del	NP_937799.1:n.340+1580_341-1477del
NM_001354723.1:c.*17+746_*18-1477del	NP_001341652.1:n.*17+746_*18-1477del
NM_000551.4:c.340+1580_464-1477del
NM_001354723.2:c.*17+746_*18-1477del	NP_001341652.1:n.*17+746_*18-1477del
NM_198156.3:c.340+1580_341-1477del	NP_937799.1:n.340+1580_341-1477del