Canonical Allele Identifier: CA645524843

Gene: VHL

Linked Data

• COSMIC: COSM253357

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142167_10142168dup , CM000665.2:g.10142167_10142168dup	GRCh38
NC_000003.11:g.10183851_10183852dup , CM000665.1:g.10183851_10183852dup	GRCh37
NC_000003.10:g.10158851_10158852dup	NCBI36
NG_008212.3:g.5533_5534dup , LRG_322:g.5533_5534dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.320_321dup	ENSP00000512434.1:p.Arg108AlafsTer10
ENST00000696143.1:c.320_321dup	ENSP00000512435.1:p.Arg108AlafsTer10
ENST00000696153.1:c.320_321dup	ENSP00000512444.1:p.Arg108AlafsTer?
ENST00000256474.3:c.320_321dup MANE Select	ENSP00000256474.3:p.Arg108AlafsTer?
ENST00000256474.2:c.320_321dup	ENSP00000256474.2:p.Arg108AlafsTer?
ENST00000345392.2:c.320_321dup	ENSP00000344757.2:p.Arg108AlafsTer11
NM_000551.3:c.320_321dup , LRG_322t1:c.320_321dup	NP_000542.1:p.Arg108AlafsTer?
NM_198156.2:c.320_321dup	NP_937799.1:p.Arg108AlafsTer11
XM_011534078.1:c.320_321dup	XP_011532380.1:p.Arg108AlafsTer10
NM_001354723.1:c.320_321dup	NP_001341652.1:p.Arg108AlafsTer10
NM_000551.4:c.320_321dup MANE Select	NP_000542.1:p.Arg108AlafsTer?
NM_001354723.2:c.320_321dup	NP_001341652.1:p.Arg108AlafsTer10
NM_198156.3:c.320_321dup	NP_937799.1:p.Arg108AlafsTer11