Canonical Allele Identifier: CA2573320342

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146559_10146560dup , CM000665.2:g.10146559_10146560dup	GRCh38
NC_000003.11:g.10188243_10188244dup , CM000665.1:g.10188243_10188244dup	GRCh37
NC_000003.10:g.10163243_10163244dup	NCBI36
NG_008212.3:g.9925_9926dup , LRG_322:g.9925_9926dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*63_*64dup	ENSP00000512434.1:n.*63_*64dup
ENST00000696143.1:c.600-3228_600-3227dup	ENSP00000512435.1:n.600-3228_600-3227dup
ENST00000696153.1:c.386_387dup	ENSP00000512444.1:p.Val130TrpfsTer?
ENST00000256474.3:c.386_387dup MANE Select	ENSP00000256474.3:p.Val130TrpfsTer30
ENST00000256474.2:c.386_387dup	ENSP00000256474.2:p.Val130TrpfsTer30
ENST00000345392.2:c.341-3228_341-3227dup	ENSP00000344757.2:n.341-3228_341-3227dup
ENST00000477538.1:n.522_523dup
NM_000551.3:c.386_387dup , LRG_322t1:c.386_387dup	NP_000542.1:p.Val130TrpfsTer30
NM_198156.2:c.341-3228_341-3227dup	NP_937799.1:n.341-3228_341-3227dup
XM_011534078.1:c.*63_*64dup	XP_011532380.1:n.*63_*64dup
NM_001354723.1:c.*18-3228_*18-3227dup	NP_001341652.1:n.*18-3228_*18-3227dup
NM_000551.4:c.386_387dup MANE Select	NP_000542.1:p.Val130TrpfsTer30
NM_001354723.2:c.*18-3228_*18-3227dup	NP_001341652.1:n.*18-3228_*18-3227dup
NM_198156.3:c.341-3228_341-3227dup	NP_937799.1:n.341-3228_341-3227dup