Canonical Allele Identifier: CA2755195172

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144319_10144320insC , CM000665.2:g.10144319_10144320insC	GRCh38
NC_000003.11:g.10186003_10186004insC , CM000665.1:g.10186003_10186004insC	GRCh37
NC_000003.10:g.10161003_10161004insC	NCBI36
NG_008212.3:g.7685_7686insC , LRG_322:g.7685_7686insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1298_*17+1299insC	ENSP00000512434.1:n.*17+1298_*17+1299insC
ENST00000696143.1:c.599+1298_599+1299insC	ENSP00000512435.1:n.599+1298_599+1299insC
ENST00000696153.1:c.340+2132_340+2133insC	ENSP00000512444.1:n.340+2132_340+2133insC
ENST00000256474.3:c.340+2132_340+2133insC MANE Select	ENSP00000256474.3:n.340+2132_340+2133insC
ENST00000256474.2:c.340+2132_340+2133insC	ENSP00000256474.2:n.340+2132_340+2133insC
ENST00000345392.2:c.340+2132_340+2133insC	ENSP00000344757.2:n.340+2132_340+2133insC
ENST00000477538.1:n.476+1298_476+1299insC
NM_000551.3:c.340+2132_340+2133insC , LRG_322t1:c.340+2132_340+2133insC	NP_000542.1:n.340+2132_340+2133insC
NM_198156.2:c.340+2132_340+2133insC	NP_937799.1:n.340+2132_340+2133insC
XM_011534078.1:c.*17+1298_*17+1299insC	XP_011532380.1:n.*17+1298_*17+1299insC
NM_001354723.1:c.*17+1298_*17+1299insC	NP_001341652.1:n.*17+1298_*17+1299insC
NM_000551.4:c.340+2132_340+2133insC MANE Select	NP_000542.1:n.340+2132_340+2133insC
NM_001354723.2:c.*17+1298_*17+1299insC	NP_001341652.1:n.*17+1298_*17+1299insC
NM_198156.3:c.340+2132_340+2133insC	NP_937799.1:n.340+2132_340+2133insC