Canonical Allele Identifier: CA16617791

Gene: VHL

Linked Data

• ClinVar Variation Id: 419677
• ClinVar RCV Id: RCV000480482
• dbSNP Id: rs1064794037
• MyVariant Identifiers: chr3:g.10191489_10191493del (hg19) ; chr3:g.10149805_10149809del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149805_10149809del , CM000665.2:g.10149805_10149809del	GRCh38
NC_000003.11:g.10191489_10191493del , CM000665.1:g.10191489_10191493del	GRCh37
NC_000003.10:g.10166489_10166493del	NCBI36
NG_008212.3:g.13171_13175del , LRG_322:g.13171_13175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*159_*163del	ENSP00000512434.1:n.*159_*163del
ENST00000696143.1:c.618_622del	ENSP00000512435.1:n.618_622del
ENST00000696153.1:c.593_597del	ENSP00000512444.1:p.Arg198ProfsTer11
ENST00000256474.3:c.482_486del MANE Select	ENSP00000256474.3:p.Arg161ProfsTer11
ENST00000256474.2:c.482_486del	ENSP00000256474.2:p.Arg161ProfsTer11
ENST00000345392.2:c.359_363del	ENSP00000344757.2:p.Arg120ProfsTer11
ENST00000477538.1:n.618_622del
NM_000551.3:c.482_486del , LRG_322t1:c.482_486del	NP_000542.1:p.Arg161ProfsTer11
NM_198156.2:c.359_363del	NP_937799.1:p.Arg120ProfsTer11
NM_001354723.1:c.*36_*40del	NP_001341652.1:n.*36_*40del
NM_000551.4:c.482_486del MANE Select	NP_000542.1:p.Arg161ProfsTer11
NM_001354723.2:c.*36_*40del	NP_001341652.1:n.*36_*40del
NM_198156.3:c.359_363del	NP_937799.1:p.Arg120ProfsTer11