Canonical Allele Identifier: CA1345067751

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10143114_10143115delinsGA , CM000665.2:g.10143114_10143115delinsGA	GRCh38
NC_000003.11:g.10184798_10184799delinsGA , CM000665.1:g.10184798_10184799delinsGA	GRCh37
NC_000003.10:g.10159798_10159799delinsGA	NCBI36
NG_008212.3:g.6480_6481delinsGA , LRG_322:g.6480_6481delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*17+93_*17+94delinsGA	ENSP00000512434.1:n.*17+93_*17+94delinsGA
ENST00000696143.1:c.599+93_599+94delinsGA	ENSP00000512435.1:n.599+93_599+94delinsGA
ENST00000696153.1:c.340+927_340+928delinsGA	ENSP00000512444.1:n.340+927_340+928delinsGA
ENST00000256474.3:c.340+927_340+928delinsGA MANE Select	ENSP00000256474.3:n.340+927_340+928delinsGA
ENST00000256474.2:c.340+927_340+928delinsGA	ENSP00000256474.2:n.340+927_340+928delinsGA
ENST00000345392.2:c.340+927_340+928delinsGA	ENSP00000344757.2:n.340+927_340+928delinsGA
ENST00000477538.1:n.476+93_476+94delinsGA
NM_000551.3:c.340+927_340+928delinsGA , LRG_322t1:c.340+927_340+928delinsGA	NP_000542.1:n.340+927_340+928delinsGA
NM_198156.2:c.340+927_340+928delinsGA	NP_937799.1:n.340+927_340+928delinsGA
XM_011534078.1:c.*17+93_*17+94delinsGA	XP_011532380.1:n.*17+93_*17+94delinsGA
NM_001354723.1:c.*17+93_*17+94delinsGA	NP_001341652.1:n.*17+93_*17+94delinsGA
NM_000551.4:c.340+927_340+928delinsGA MANE Select	NP_000542.1:n.340+927_340+928delinsGA
NM_001354723.2:c.*17+93_*17+94delinsGA	NP_001341652.1:n.*17+93_*17+94delinsGA
NM_198156.3:c.340+927_340+928delinsGA	NP_937799.1:n.340+927_340+928delinsGA