Canonical Allele Identifier: CA913190157

Gene: VHL

Linked Data

• ClinVar Variation Id: 625245
• ClinVar RCV Id: RCV000767269
• dbSNP Id: rs1559428164

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146586del , CM000665.2:g.10146586del	GRCh38
NC_000003.11:g.10188270del , CM000665.1:g.10188270del	GRCh37
NC_000003.10:g.10163270del	NCBI36
NG_008212.3:g.9952del , LRG_322:g.9952del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*90del	ENSP00000512434.1:n.*90del
ENST00000696143.1:c.600-3201del	ENSP00000512435.1:n.600-3201del
ENST00000696153.1:c.413del	ENSP00000512444.1:p.Pro138HisfsTer?
ENST00000256474.3:c.413del MANE Select	ENSP00000256474.3:p.Pro138HisfsTer21
ENST00000256474.2:c.413del	ENSP00000256474.2:p.Pro138HisfsTer21
ENST00000345392.2:c.341-3201del	ENSP00000344757.2:n.341-3201del
ENST00000477538.1:n.549del
NM_000551.3:c.413del , LRG_322t1:c.413del	NP_000542.1:p.Pro138HisfsTer21
NM_198156.2:c.341-3201del	NP_937799.1:n.341-3201del
XM_011534078.1:c.*90del	XP_011532380.1:n.*90del
NM_001354723.1:c.*18-3201del	NP_001341652.1:n.*18-3201del
NM_000551.4:c.413del MANE Select	NP_000542.1:p.Pro138HisfsTer21
NM_001354723.2:c.*18-3201del	NP_001341652.1:n.*18-3201del
NM_198156.3:c.341-3201del	NP_937799.1:n.341-3201del