Canonical Allele Identifier: CA2586965625

Gene: VHL

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146480_10146502del , CM000665.2:g.10146480_10146502del	GRCh38
NC_000003.11:g.10188164_10188186del , CM000665.1:g.10188164_10188186del	GRCh37
NC_000003.10:g.10163164_10163186del	NCBI36
NG_008212.3:g.9846_9868del , LRG_322:g.9846_9868del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*18-34_*18-12del	ENSP00000512434.1:n.*18-34_*18-12del
ENST00000696143.1:c.600-3307_600-3285del	ENSP00000512435.1:n.600-3307_600-3285del
ENST00000696153.1:c.341-34_341-12del	ENSP00000512444.1:n.341-34_341-12del
ENST00000256474.3:c.341-34_341-12del MANE Select	ENSP00000256474.3:n.341-34_341-12del
ENST00000256474.2:c.341-34_341-12del	ENSP00000256474.2:n.341-34_341-12del
ENST00000345392.2:c.341-3307_341-3285del	ENSP00000344757.2:n.341-3307_341-3285del
ENST00000477538.1:n.477-34_477-12del
NM_000551.3:c.341-34_341-12del , LRG_322t1:c.341-34_341-12del	NP_000542.1:n.341-34_341-12del
NM_198156.2:c.341-3307_341-3285del	NP_937799.1:n.341-3307_341-3285del
XM_011534078.1:c.*18-34_*18-12del	XP_011532380.1:n.*18-34_*18-12del
NM_001354723.1:c.*18-3307_*18-3285del	NP_001341652.1:n.*18-3307_*18-3285del
NM_000551.4:c.341-34_341-12del MANE Select	NP_000542.1:n.341-34_341-12del
NM_001354723.2:c.*18-3307_*18-3285del	NP_001341652.1:n.*18-3307_*18-3285del
NM_198156.3:c.341-3307_341-3285del	NP_937799.1:n.341-3307_341-3285del