Canonical Allele Identifier: CA1345067781

Gene: VHL

Linked Data

• dbSNP Id: rs1696168018

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143121_10143122insCT , CM000665.2:g.10143121_10143122insCT	GRCh38
NC_000003.11:g.10184805_10184806insCT , CM000665.1:g.10184805_10184806insCT	GRCh37
NC_000003.10:g.10159805_10159806insCT	NCBI36
NG_008212.3:g.6487_6488insCT , LRG_322:g.6487_6488insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+100_*17+101insCT	ENSP00000512434.1:n.*17+100_*17+101insCT
ENST00000696143.1:c.599+100_599+101insCT	ENSP00000512435.1:n.599+100_599+101insCT
ENST00000696153.1:c.340+934_340+935insCT	ENSP00000512444.1:n.340+934_340+935insCT
ENST00000256474.3:c.340+934_340+935insCT MANE Select	ENSP00000256474.3:n.340+934_340+935insCT
ENST00000256474.2:c.340+934_340+935insCT	ENSP00000256474.2:n.340+934_340+935insCT
ENST00000345392.2:c.340+934_340+935insCT	ENSP00000344757.2:n.340+934_340+935insCT
ENST00000477538.1:n.476+100_476+101insCT
NM_000551.3:c.340+934_340+935insCT , LRG_322t1:c.340+934_340+935insCT	NP_000542.1:n.340+934_340+935insCT
NM_198156.2:c.340+934_340+935insCT	NP_937799.1:n.340+934_340+935insCT
XM_011534078.1:c.*17+100_*17+101insCT	XP_011532380.1:n.*17+100_*17+101insCT
NM_001354723.1:c.*17+100_*17+101insCT	NP_001341652.1:n.*17+100_*17+101insCT
NM_000551.4:c.340+934_340+935insCT MANE Select	NP_000542.1:n.340+934_340+935insCT
NM_001354723.2:c.*17+100_*17+101insCT	NP_001341652.1:n.*17+100_*17+101insCT
NM_198156.3:c.340+934_340+935insCT	NP_937799.1:n.340+934_340+935insCT