Canonical Allele Identifier: CA1044995625

Gene: VHL

Linked Data

• dbSNP Id: rs35658375
• gnomAD v3: 3-10143117-ATTTTT-A
• gnomAD v4: 3-10143117-ATTTTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143128_10143132del , CM000665.2:g.10143128_10143132del	GRCh38
NC_000003.11:g.10184812_10184816del , CM000665.1:g.10184812_10184816del	GRCh37
NC_000003.10:g.10159812_10159816del	NCBI36
NG_008212.3:g.6494_6498del , LRG_322:g.6494_6498del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+107_*17+111del	ENSP00000512434.1:n.*17+107_*17+111del
ENST00000696143.1:c.599+107_599+111del	ENSP00000512435.1:n.599+107_599+111del
ENST00000696153.1:c.340+941_340+945del	ENSP00000512444.1:n.340+941_340+945del
ENST00000256474.3:c.340+941_340+945del MANE Select	ENSP00000256474.3:n.340+941_340+945del
ENST00000256474.2:c.340+941_340+945del	ENSP00000256474.2:n.340+941_340+945del
ENST00000345392.2:c.340+941_340+945del	ENSP00000344757.2:n.340+941_340+945del
ENST00000477538.1:n.476+107_476+111del
NM_000551.3:c.340+941_340+945del , LRG_322t1:c.340+941_340+945del	NP_000542.1:n.340+941_340+945del
NM_198156.2:c.340+941_340+945del	NP_937799.1:n.340+941_340+945del
XM_011534078.1:c.*17+107_*17+111del	XP_011532380.1:n.*17+107_*17+111del
NM_001354723.1:c.*17+107_*17+111del	NP_001341652.1:n.*17+107_*17+111del
NM_000551.4:c.340+941_340+945del MANE Select	NP_000542.1:n.340+941_340+945del
NM_001354723.2:c.*17+107_*17+111del	NP_001341652.1:n.*17+107_*17+111del
NM_198156.3:c.340+941_340+945del	NP_937799.1:n.340+941_340+945del