Canonical Allele Identifier: CA1345059191

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146894_10146902delinsTTTGTAGAA , CM000665.2:g.10146894_10146902delinsTTTGTAGAA	GRCh38
NC_000003.11:g.10188578_10188586delinsTTTGTAGAA , CM000665.1:g.10188578_10188586delinsTTTGTAGAA	GRCh37
NC_000003.10:g.10163578_10163586delinsTTTGTAGAA	NCBI36
NG_008212.3:g.10260_10268delinsTTTGTAGAA , LRG_322:g.10260_10268delinsTTTGTAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*140+258_*140+266delinsTTTGTAGAA	ENSP00000512434.1:n.*140+258_*140+266delinsTTTGTAGAA
ENST00000696143.1:c.600-2893_600-2885delinsTTTGTAGAA	ENSP00000512435.1:n.600-2893_600-2885delinsTTTGTAGAA
ENST00000696153.1:c.463+258_463+266delinsTTTGTAGAA	ENSP00000512444.1:n.463+258_463+266delinsTTTGTAGAA
ENST00000256474.3:c.463+258_463+266delinsTTTGTAGAA MANE Select	ENSP00000256474.3:n.463+258_463+266delinsTTTGTAGAA
ENST00000256474.2:c.463+258_463+266delinsTTTGTAGAA	ENSP00000256474.2:n.463+258_463+266delinsTTTGTAGAA
ENST00000345392.2:c.341-2893_341-2885delinsTTTGTAGAA	ENSP00000344757.2:n.341-2893_341-2885delinsTTTGTAGAA
ENST00000477538.1:n.599+258_599+266delinsTTTGTAGAA
NM_000551.3:c.463+258_463+266delinsTTTGTAGAA , LRG_322t1:c.463+258_463+266delinsTTTGTAGAA	NP_000542.1:n.463+258_463+266delinsTTTGTAGAA
NM_198156.2:c.341-2893_341-2885delinsTTTGTAGAA	NP_937799.1:n.341-2893_341-2885delinsTTTGTAGAA
NM_001354723.1:c.*18-2893_*18-2885delinsTTTGTAGAA	NP_001341652.1:n.*18-2893_*18-2885delinsTTTGTAGAA
NM_000551.4:c.463+258_463+266delinsTTTGTAGAA MANE Select	NP_000542.1:n.463+258_463+266delinsTTTGTAGAA
NM_001354723.2:c.*18-2893_*18-2885delinsTTTGTAGAA	NP_001341652.1:n.*18-2893_*18-2885delinsTTTGTAGAA
NM_198156.3:c.341-2893_341-2885delinsTTTGTAGAA	NP_937799.1:n.341-2893_341-2885delinsTTTGTAGAA