Canonical Allele Identifier: CA2499216363

Gene: VHL

Linked Data

• ClinVar Variation Id: 1056260
• ClinVar RCV Id: RCV001365060
• dbSNP Id: rs2125125944

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142853del , CM000665.2:g.10142853del	GRCh38
NC_000003.11:g.10184537del , CM000665.1:g.10184537del	GRCh37
NC_000003.10:g.10159537del	NCBI36
NG_008212.3:g.6219del , LRG_322:g.6219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.431del	ENSP00000512434.1:p.Gly144GlufsTer20
ENST00000696143.1:c.431del	ENSP00000512435.1:p.Gly144GlufsTer20
ENST00000696153.1:c.340+666del	ENSP00000512444.1:n.340+666del
ENST00000256474.3:c.340+666del MANE Select	ENSP00000256474.3:n.340+666del
ENST00000256474.2:c.340+666del	ENSP00000256474.2:n.340+666del
ENST00000345392.2:c.340+666del	ENSP00000344757.2:n.340+666del
ENST00000477538.1:n.308del
NM_000551.3:c.340+666del , LRG_322t1:c.340+666del	NP_000542.1:n.340+666del
NM_198156.2:c.340+666del	NP_937799.1:n.340+666del
XM_011534078.1:c.431del	XP_011532380.1:p.Gly144GlufsTer20
NM_001354723.1:c.431del	NP_001341652.1:p.Gly144GlufsTer20
NM_000551.4:c.340+666del MANE Select	NP_000542.1:n.340+666del
NM_001354723.2:c.431del	NP_001341652.1:p.Gly144GlufsTer20
NM_198156.3:c.340+666del	NP_937799.1:n.340+666del