Canonical Allele Identifier: CA1345059720

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10147472_10147473delinsCT , CM000665.2:g.10147472_10147473delinsCT	GRCh38
NC_000003.11:g.10189156_10189157delinsCT , CM000665.1:g.10189156_10189157delinsCT	GRCh37
NC_000003.10:g.10164156_10164157delinsCT	NCBI36
NG_008212.3:g.10838_10839delinsCT , LRG_322:g.10838_10839delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*140+836_*140+837delinsCT	ENSP00000512434.1:n.*140+836_*140+837delinsCT
ENST00000696143.1:c.600-2315_600-2314delinsCT	ENSP00000512435.1:n.600-2315_600-2314delinsCT
ENST00000696153.1:c.463+836_463+837delinsCT	ENSP00000512444.1:n.463+836_463+837delinsCT
ENST00000256474.3:c.463+836_463+837delinsCT MANE Select	ENSP00000256474.3:n.463+836_463+837delinsCT
ENST00000256474.2:c.463+836_463+837delinsCT	ENSP00000256474.2:n.463+836_463+837delinsCT
ENST00000345392.2:c.341-2315_341-2314delinsCT	ENSP00000344757.2:n.341-2315_341-2314delinsCT
ENST00000477538.1:n.599+836_599+837delinsCT
NM_000551.3:c.463+836_463+837delinsCT , LRG_322t1:c.463+836_463+837delinsCT	NP_000542.1:n.463+836_463+837delinsCT
NM_198156.2:c.341-2315_341-2314delinsCT	NP_937799.1:n.341-2315_341-2314delinsCT
NM_001354723.1:c.*18-2315_*18-2314delinsCT	NP_001341652.1:n.*18-2315_*18-2314delinsCT
NM_000551.4:c.463+836_463+837delinsCT MANE Select	NP_000542.1:n.463+836_463+837delinsCT
NM_001354723.2:c.*18-2315_*18-2314delinsCT	NP_001341652.1:n.*18-2315_*18-2314delinsCT
NM_198156.3:c.341-2315_341-2314delinsCT	NP_937799.1:n.341-2315_341-2314delinsCT