Canonical Allele Identifier: CA2499216373

Gene: VHL

Linked Data

• ClinVar Variation Id: 997726
• ClinVar RCV Id: RCV001293283

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143730_10148596del , CM000665.2:g.10143730_10148596del	GRCh38
NC_000003.11:g.10185414_10190280del , CM000665.1:g.10185414_10190280del	GRCh37
NC_000003.10:g.10160414_10165280del	NCBI36
NG_008212.3:g.7096_11962del , LRG_322:g.7096_11962del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+709_*141-1191del
ENST00000696143.1:c.599+709_600-1191del	ENSP00000512435.1:n.599+709_600-1191del
ENST00000696153.1:c.340+1543_464-108del
ENST00000256474.3:c.340+1543_464-1191del
ENST00000256474.2:c.340+1543_464-1191del
ENST00000345392.2:c.340+1543_341-1191del	ENSP00000344757.2:n.340+1543_341-1191del
ENST00000477538.1:n.476+709_600-1191del
NM_000551.3:c.340+1543_464-1191del , LRG_322t1:c.340+1543_464-1191del
NM_198156.2:c.340+1543_341-1191del	NP_937799.1:n.340+1543_341-1191del
NM_001354723.1:c.*17+709_*18-1191del	NP_001341652.1:n.*17+709_*18-1191del
NM_000551.4:c.340+1543_464-1191del
NM_001354723.2:c.*17+709_*18-1191del	NP_001341652.1:n.*17+709_*18-1191del
NM_198156.3:c.340+1543_341-1191del	NP_937799.1:n.340+1543_341-1191del