Canonical Allele Identifier: CA1345068565

Gene: VHL

Linked Data

• dbSNP Id: rs1696200634

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144311_10144312insGA , CM000665.2:g.10144311_10144312insGA	GRCh38
NC_000003.11:g.10185995_10185996insGA , CM000665.1:g.10185995_10185996insGA	GRCh37
NC_000003.10:g.10160995_10160996insGA	NCBI36
NG_008212.3:g.7677_7678insGA , LRG_322:g.7677_7678insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1290_*17+1291insGA	ENSP00000512434.1:n.*17+1290_*17+1291insGA
ENST00000696143.1:c.599+1290_599+1291insGA	ENSP00000512435.1:n.599+1290_599+1291insGA
ENST00000696153.1:c.340+2124_340+2125insGA	ENSP00000512444.1:n.340+2124_340+2125insGA
ENST00000256474.3:c.340+2124_340+2125insGA MANE Select	ENSP00000256474.3:n.340+2124_340+2125insGA
ENST00000256474.2:c.340+2124_340+2125insGA	ENSP00000256474.2:n.340+2124_340+2125insGA
ENST00000345392.2:c.340+2124_340+2125insGA	ENSP00000344757.2:n.340+2124_340+2125insGA
ENST00000477538.1:n.476+1290_476+1291insGA
NM_000551.3:c.340+2124_340+2125insGA , LRG_322t1:c.340+2124_340+2125insGA	NP_000542.1:n.340+2124_340+2125insGA
NM_198156.2:c.340+2124_340+2125insGA	NP_937799.1:n.340+2124_340+2125insGA
XM_011534078.1:c.*17+1290_*17+1291insGA	XP_011532380.1:n.*17+1290_*17+1291insGA
NM_001354723.1:c.*17+1290_*17+1291insGA	NP_001341652.1:n.*17+1290_*17+1291insGA
NM_000551.4:c.340+2124_340+2125insGA MANE Select	NP_000542.1:n.340+2124_340+2125insGA
NM_001354723.2:c.*17+1290_*17+1291insGA	NP_001341652.1:n.*17+1290_*17+1291insGA
NM_198156.3:c.340+2124_340+2125insGA	NP_937799.1:n.340+2124_340+2125insGA