Canonical Allele Identifier: CA645524886

Gene: VHL

Linked Data

• COSMIC: COSM423189

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146523_10146538del , CM000665.2:g.10146523_10146538del	GRCh38
NC_000003.11:g.10188207_10188222del , CM000665.1:g.10188207_10188222del	GRCh37
NC_000003.10:g.10163207_10163222del	NCBI36
NG_008212.3:g.9889_9904del , LRG_322:g.9889_9904del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*27_*42del	ENSP00000512434.1:n.*27_*42del
ENST00000696143.1:c.600-3264_600-3249del	ENSP00000512435.1:n.600-3264_600-3249del
ENST00000696153.1:c.350_365del	ENSP00000512444.1:p.Trp117Ter
ENST00000256474.3:c.350_365del MANE Select	ENSP00000256474.3:p.Trp117Ter
ENST00000256474.2:c.350_365del	ENSP00000256474.2:p.Trp117Ter
ENST00000345392.2:c.341-3264_341-3249del	ENSP00000344757.2:n.341-3264_341-3249del
ENST00000477538.1:n.486_501del
NM_000551.3:c.350_365del , LRG_322t1:c.350_365del	NP_000542.1:p.Trp117Ter
NM_198156.2:c.341-3264_341-3249del	NP_937799.1:n.341-3264_341-3249del
XM_011534078.1:c.*27_*42del	XP_011532380.1:n.*27_*42del
NM_001354723.1:c.*18-3264_*18-3249del	NP_001341652.1:n.*18-3264_*18-3249del
NM_000551.4:c.350_365del MANE Select	NP_000542.1:p.Trp117Ter
NM_001354723.2:c.*18-3264_*18-3249del	NP_001341652.1:n.*18-3264_*18-3249del
NM_198156.3:c.341-3264_341-3249del	NP_937799.1:n.341-3264_341-3249del