Canonical Allele Identifier: CA2551936637

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10144507_10144508insC , CM000665.2:g.10144507_10144508insC	GRCh38
NC_000003.11:g.10186191_10186192insC , CM000665.1:g.10186191_10186192insC	GRCh37
NC_000003.10:g.10161191_10161192insC	NCBI36
NG_008212.3:g.7873_7874insC , LRG_322:g.7873_7874insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*17+1486_*17+1487insC	ENSP00000512434.1:n.*17+1486_*17+1487insC
ENST00000696143.1:c.599+1486_599+1487insC	ENSP00000512435.1:n.599+1486_599+1487insC
ENST00000696153.1:c.341-2007_341-2006insC	ENSP00000512444.1:n.341-2007_341-2006insC
ENST00000256474.3:c.341-2007_341-2006insC MANE Select	ENSP00000256474.3:n.341-2007_341-2006insC
ENST00000256474.2:c.341-2007_341-2006insC	ENSP00000256474.2:n.341-2007_341-2006insC
ENST00000345392.2:c.340+2320_340+2321insC	ENSP00000344757.2:n.340+2320_340+2321insC
ENST00000477538.1:n.476+1486_476+1487insC
NM_000551.3:c.341-2007_341-2006insC , LRG_322t1:c.341-2007_341-2006insC	NP_000542.1:n.341-2007_341-2006insC
NM_198156.2:c.340+2320_340+2321insC	NP_937799.1:n.340+2320_340+2321insC
XM_011534078.1:c.*17+1486_*17+1487insC	XP_011532380.1:n.*17+1486_*17+1487insC
NM_001354723.1:c.*17+1486_*17+1487insC	NP_001341652.1:n.*17+1486_*17+1487insC
NM_000551.4:c.341-2007_341-2006insC MANE Select	NP_000542.1:n.341-2007_341-2006insC
NM_001354723.2:c.*17+1486_*17+1487insC	NP_001341652.1:n.*17+1486_*17+1487insC
NM_198156.3:c.340+2320_340+2321insC	NP_937799.1:n.340+2320_340+2321insC