Canonical Allele Identifier: CA2586965648

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142101dup , CM000665.2:g.10142101dup	GRCh38
NC_000003.11:g.10183785dup , CM000665.1:g.10183785dup	GRCh37
NC_000003.10:g.10158785dup	NCBI36
NG_008212.3:g.5467dup , LRG_322:g.5467dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.254dup	ENSP00000512434.1:p.Pro86AlafsTer?
ENST00000696143.1:c.254dup	ENSP00000512435.1:p.Pro86AlafsTer?
ENST00000696153.1:c.254dup	ENSP00000512444.1:p.Pro86AlafsTer?
ENST00000256474.3:c.254dup MANE Select	ENSP00000256474.3:p.Pro86AlafsTer?
ENST00000256474.2:c.254dup	ENSP00000256474.2:p.Pro86AlafsTer?
ENST00000345392.2:c.254dup	ENSP00000344757.2:p.Pro86AlafsTer?
NM_000551.3:c.254dup , LRG_322t1:c.254dup	NP_000542.1:p.Pro86AlafsTer?
NM_198156.2:c.254dup	NP_937799.1:p.Pro86AlafsTer?
XM_011534078.1:c.254dup	XP_011532380.1:p.Pro86AlafsTer?
NM_001354723.1:c.254dup	NP_001341652.1:p.Pro86AlafsTer?
NM_000551.4:c.254dup MANE Select	NP_000542.1:p.Pro86AlafsTer?
NM_001354723.2:c.254dup	NP_001341652.1:p.Pro86AlafsTer?
NM_198156.3:c.254dup	NP_937799.1:p.Pro86AlafsTer?