Canonical Allele Identifier: CA2499216353

Gene: VHL

Linked Data

• ClinVar Variation Id: 997757
• ClinVar RCV Id: RCV001293314

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142408_10148376del , CM000665.2:g.10142408_10148376del	GRCh38
NC_000003.11:g.10184092_10190060del , CM000665.1:g.10184092_10190060del	GRCh37
NC_000003.10:g.10159092_10165060del	NCBI36
NG_008212.3:g.5774_11742del , LRG_322:g.5774_11742del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.340+221_*141-1411del
ENST00000696143.1:c.340+221_600-1411del
ENST00000696153.1:c.340+221_464-328del
ENST00000256474.3:c.340+221_464-1411del
ENST00000256474.2:c.340+221_464-1411del
ENST00000345392.2:c.340+221_341-1411del	ENSP00000344757.2:n.340+221_341-1411del
NM_000551.3:c.340+221_464-1411del , LRG_322t1:c.340+221_464-1411del
NM_198156.2:c.340+221_341-1411del	NP_937799.1:n.340+221_341-1411del
NM_001354723.1:c.340+221_*18-1411del
NM_000551.4:c.340+221_464-1411del
NM_001354723.2:c.340+221_*18-1411del
NM_198156.3:c.340+221_341-1411del	NP_937799.1:n.340+221_341-1411del