Canonical Allele Identifier: CA2664402575

Gene: VHL

Linked Data

• gnomAD v4: 3-10143132-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143133del , CM000665.2:g.10143133del	GRCh38
NC_000003.11:g.10184817del , CM000665.1:g.10184817del	GRCh37
NC_000003.10:g.10159817del	NCBI36
NG_008212.3:g.6499del , LRG_322:g.6499del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+112del	ENSP00000512434.1:n.*17+112del
ENST00000696143.1:c.599+112del	ENSP00000512435.1:n.599+112del
ENST00000696153.1:c.340+946del	ENSP00000512444.1:n.340+946del
ENST00000256474.3:c.340+946del MANE Select	ENSP00000256474.3:n.340+946del
ENST00000256474.2:c.340+946del	ENSP00000256474.2:n.340+946del
ENST00000345392.2:c.340+946del	ENSP00000344757.2:n.340+946del
ENST00000477538.1:n.476+112del
NM_000551.3:c.340+946del , LRG_322t1:c.340+946del	NP_000542.1:n.340+946del
NM_198156.2:c.340+946del	NP_937799.1:n.340+946del
XM_011534078.1:c.*17+112del	XP_011532380.1:n.*17+112del
NM_001354723.1:c.*17+112del	NP_001341652.1:n.*17+112del
NM_000551.4:c.340+946del MANE Select	NP_000542.1:n.340+946del
NM_001354723.2:c.*17+112del	NP_001341652.1:n.*17+112del
NM_198156.3:c.340+946del	NP_937799.1:n.340+946del