Canonical Allele Identifier: CA1345058535

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146554_10146555delinsGC , CM000665.2:g.10146554_10146555delinsGC	GRCh38
NC_000003.11:g.10188238_10188239delinsGC , CM000665.1:g.10188238_10188239delinsGC	GRCh37
NC_000003.10:g.10163238_10163239delinsGC	NCBI36
NG_008212.3:g.9920_9921delinsGC , LRG_322:g.9920_9921delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*58_*59delinsGC	ENSP00000512434.1:n.*58_*59delinsGC
ENST00000696143.1:c.600-3233_600-3232delinsGC	ENSP00000512435.1:n.600-3233_600-3232delinsGC
ENST00000696153.1:c.381_382delinsGC	ENSP00000512444.1:p.Gly127=
ENST00000256474.3:c.381_382delinsGC MANE Select	ENSP00000256474.3:p.Gly127=
ENST00000256474.2:c.381_382delinsGC	ENSP00000256474.2:p.Gly127=
ENST00000345392.2:c.341-3233_341-3232delinsGC	ENSP00000344757.2:n.341-3233_341-3232delinsGC
ENST00000477538.1:n.517_518delinsGC
NM_000551.3:c.381_382delinsGC , LRG_322t1:c.381_382delinsGC	NP_000542.1:p.Gly127=
NM_198156.2:c.341-3233_341-3232delinsGC	NP_937799.1:n.341-3233_341-3232delinsGC
XM_011534078.1:c.*58_*59delinsGC	XP_011532380.1:n.*58_*59delinsGC
NM_001354723.1:c.*18-3233_*18-3232delinsGC	NP_001341652.1:n.*18-3233_*18-3232delinsGC
NM_000551.4:c.381_382delinsGC MANE Select	NP_000542.1:p.Gly127=
NM_001354723.2:c.*18-3233_*18-3232delinsGC	NP_001341652.1:n.*18-3233_*18-3232delinsGC
NM_198156.3:c.341-3233_341-3232delinsGC	NP_937799.1:n.341-3233_341-3232delinsGC