Canonical Allele Identifier: CA645524939

Gene: VHL

Linked Data

• COSMIC: COSM17646

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146574_10146575insT , CM000665.2:g.10146574_10146575insT	GRCh38
NC_000003.11:g.10188258_10188259insT , CM000665.1:g.10188258_10188259insT	GRCh37
NC_000003.10:g.10163258_10163259insT	NCBI36
NG_008212.3:g.9940_9941insT , LRG_322:g.9940_9941insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*78_*79insT	ENSP00000512434.1:n.*78_*79insT
ENST00000696143.1:c.600-3213_600-3212insT	ENSP00000512435.1:n.600-3213_600-3212insT
ENST00000696153.1:c.401_402insT	ENSP00000512444.1:p.Glu134AspfsTer10
ENST00000256474.3:c.401_402insT MANE Select	ENSP00000256474.3:p.Glu134AspfsTer10
ENST00000256474.2:c.401_402insT	ENSP00000256474.2:p.Glu134AspfsTer10
ENST00000345392.2:c.341-3213_341-3212insT	ENSP00000344757.2:n.341-3213_341-3212insT
ENST00000477538.1:n.537_538insT
NM_000551.3:c.401_402insT , LRG_322t1:c.401_402insT	NP_000542.1:p.Glu134AspfsTer10
NM_198156.2:c.341-3213_341-3212insT	NP_937799.1:n.341-3213_341-3212insT
XM_011534078.1:c.*78_*79insT	XP_011532380.1:n.*78_*79insT
NM_001354723.1:c.*18-3213_*18-3212insT	NP_001341652.1:n.*18-3213_*18-3212insT
NM_000551.4:c.401_402insT MANE Select	NP_000542.1:p.Glu134AspfsTer10
NM_001354723.2:c.*18-3213_*18-3212insT	NP_001341652.1:n.*18-3213_*18-3212insT
NM_198156.3:c.341-3213_341-3212insT	NP_937799.1:n.341-3213_341-3212insT