Canonical Allele Identifier: CA1345058482

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146548_10146555delinsCGATGGGC , CM000665.2:g.10146548_10146555delinsCGATGGGC	GRCh38
NC_000003.11:g.10188232_10188239delinsCGATGGGC , CM000665.1:g.10188232_10188239delinsCGATGGGC	GRCh37
NC_000003.10:g.10163232_10163239delinsCGATGGGC	NCBI36
NG_008212.3:g.9914_9921delinsCGATGGGC , LRG_322:g.9914_9921delinsCGATGGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*52_*59delinsCGATGGGC	ENSP00000512434.1:n.*52_*59delinsCGATGGGC
ENST00000696143.1:c.600-3239_600-3232delinsCGATGGGC	ENSP00000512435.1:n.600-3239_600-3232delinsCGATGGGC
ENST00000696153.1:c.375_382delinsCGATGGGC	ENSP00000512444.1:p.His125=
ENST00000256474.3:c.375_382delinsCGATGGGC MANE Select	ENSP00000256474.3:p.His125=
ENST00000256474.2:c.375_382delinsCGATGGGC	ENSP00000256474.2:p.His125=
ENST00000345392.2:c.341-3239_341-3232delinsCGATGGGC	ENSP00000344757.2:n.341-3239_341-3232delinsCGATGGGC
ENST00000477538.1:n.511_518delinsCGATGGGC
NM_000551.3:c.375_382delinsCGATGGGC , LRG_322t1:c.375_382delinsCGATGGGC	NP_000542.1:p.His125=
NM_198156.2:c.341-3239_341-3232delinsCGATGGGC	NP_937799.1:n.341-3239_341-3232delinsCGATGGGC
XM_011534078.1:c.*52_*59delinsCGATGGGC	XP_011532380.1:n.*52_*59delinsCGATGGGC
NM_001354723.1:c.*18-3239_*18-3232delinsCGATGGGC	NP_001341652.1:n.*18-3239_*18-3232delinsCGATGGGC
NM_000551.4:c.375_382delinsCGATGGGC MANE Select	NP_000542.1:p.His125=
NM_001354723.2:c.*18-3239_*18-3232delinsCGATGGGC	NP_001341652.1:n.*18-3239_*18-3232delinsCGATGGGC
NM_198156.3:c.341-3239_341-3232delinsCGATGGGC	NP_937799.1:n.341-3239_341-3232delinsCGATGGGC