Canonical Allele Identifier: CA2573130306

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146558_10146559dup , CM000665.2:g.10146558_10146559dup	GRCh38
NC_000003.11:g.10188242_10188243dup , CM000665.1:g.10188242_10188243dup	GRCh37
NC_000003.10:g.10163242_10163243dup	NCBI36
NG_008212.3:g.9924_9925dup , LRG_322:g.9924_9925dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*62_*63dup	ENSP00000512434.1:n.*62_*63dup
ENST00000696143.1:c.600-3229_600-3228dup	ENSP00000512435.1:n.600-3229_600-3228dup
ENST00000696153.1:c.385_386dup	ENSP00000512444.1:p.Val130TrpfsTer?
ENST00000256474.3:c.385_386dup MANE Select	ENSP00000256474.3:p.Val130TrpfsTer30
ENST00000256474.2:c.385_386dup	ENSP00000256474.2:p.Val130TrpfsTer30
ENST00000345392.2:c.341-3229_341-3228dup	ENSP00000344757.2:n.341-3229_341-3228dup
ENST00000477538.1:n.521_522dup
NM_000551.3:c.385_386dup , LRG_322t1:c.385_386dup	NP_000542.1:p.Val130TrpfsTer30
NM_198156.2:c.341-3229_341-3228dup	NP_937799.1:n.341-3229_341-3228dup
XM_011534078.1:c.*62_*63dup	XP_011532380.1:n.*62_*63dup
NM_001354723.1:c.*18-3229_*18-3228dup	NP_001341652.1:n.*18-3229_*18-3228dup
NM_000551.4:c.385_386dup MANE Select	NP_000542.1:p.Val130TrpfsTer30
NM_001354723.2:c.*18-3229_*18-3228dup	NP_001341652.1:n.*18-3229_*18-3228dup
NM_198156.3:c.341-3229_341-3228dup	NP_937799.1:n.341-3229_341-3228dup