Canonical Allele Identifier: CA1345069550

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146223_10146238delinsGAGTGCAGTGGCGCGA , CM000665.2:g.10146223_10146238delinsGAGTGCAGTGGCGCGA	GRCh38
NC_000003.11:g.10187907_10187922delinsGAGTGCAGTGGCGCGA , CM000665.1:g.10187907_10187922delinsGAGTGCAGTGGCGCGA	GRCh37
NC_000003.10:g.10162907_10162922delinsGAGTGCAGTGGCGCGA	NCBI36
NG_008212.3:g.9589_9604delinsGAGTGCAGTGGCGCGA , LRG_322:g.9589_9604delinsGAGTGCAGTGGCGCGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-291_*18-276delinsGAGTGCAGTGGCGCGA	ENSP00000512434.1:n.*18-291_*18-276delinsGAGTGCAGTGGCGCGA
ENST00000696143.1:c.599+3202_599+3217delinsGAGTGCAGTGGCGCGA	ENSP00000512435.1:n.599+3202_599+3217delinsGAGTGCAGTGGCGCGA
ENST00000696153.1:c.341-291_341-276delinsGAGTGCAGTGGCGCGA	ENSP00000512444.1:n.341-291_341-276delinsGAGTGCAGTGGCGCGA
ENST00000256474.3:c.341-291_341-276delinsGAGTGCAGTGGCGCGA MANE Select	ENSP00000256474.3:n.341-291_341-276delinsGAGTGCAGTGGCGCGA
ENST00000256474.2:c.341-291_341-276delinsGAGTGCAGTGGCGCGA	ENSP00000256474.2:n.341-291_341-276delinsGAGTGCAGTGGCGCGA
ENST00000345392.2:c.341-3564_341-3549delinsGAGTGCAGTGGCGCGA	ENSP00000344757.2:n.341-3564_341-3549delinsGAGTGCAGTGGCGCGA
ENST00000477538.1:n.477-291_477-276delinsGAGTGCAGTGGCGCGA
NM_000551.3:c.341-291_341-276delinsGAGTGCAGTGGCGCGA , LRG_322t1:c.341-291_341-276delinsGAGTGCAGTGGCGCGA	NP_000542.1:n.341-291_341-276delinsGAGTGCAGTGGCGCGA
NM_198156.2:c.341-3564_341-3549delinsGAGTGCAGTGGCGCGA	NP_937799.1:n.341-3564_341-3549delinsGAGTGCAGTGGCGCGA
XM_011534078.1:c.*18-291_*18-276delinsGAGTGCAGTGGCGCGA	XP_011532380.1:n.*18-291_*18-276delinsGAGTGCAGTGGCGCGA
NM_001354723.1:c.*17+3202_*17+3217delinsGAGTGCAGTGGCGCGA	NP_001341652.1:n.*17+3202_*17+3217delinsGAGTGCAGTGGCGCGA
NM_000551.4:c.341-291_341-276delinsGAGTGCAGTGGCGCGA MANE Select	NP_000542.1:n.341-291_341-276delinsGAGTGCAGTGGCGCGA
NM_001354723.2:c.*17+3202_*17+3217delinsGAGTGCAGTGGCGCGA	NP_001341652.1:n.*17+3202_*17+3217delinsGAGTGCAGTGGCGCGA
NM_198156.3:c.341-3564_341-3549delinsGAGTGCAGTGGCGCGA	NP_937799.1:n.341-3564_341-3549delinsGAGTGCAGTGGCGCGA