Canonical Allele Identifier: CA645524893

Gene: VHL

Linked Data

• COSMIC: COSM4186068

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146530_10146534del , CM000665.2:g.10146530_10146534del	GRCh38
NC_000003.11:g.10188214_10188218del , CM000665.1:g.10188214_10188218del	GRCh37
NC_000003.10:g.10163214_10163218del	NCBI36
NG_008212.3:g.9896_9900del , LRG_322:g.9896_9900del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*34_*38del	ENSP00000512434.1:n.*34_*38del
ENST00000696143.1:c.600-3257_600-3253del	ENSP00000512435.1:n.600-3257_600-3253del
ENST00000696153.1:c.357_361del	ENSP00000512444.1:p.Phe119LeufsTer11
ENST00000256474.3:c.357_361del MANE Select	ENSP00000256474.3:p.Phe119LeufsTer11
ENST00000256474.2:c.357_361del	ENSP00000256474.2:p.Phe119LeufsTer11
ENST00000345392.2:c.341-3257_341-3253del	ENSP00000344757.2:n.341-3257_341-3253del
ENST00000477538.1:n.493_497del
NM_000551.3:c.357_361del , LRG_322t1:c.357_361del	NP_000542.1:p.Phe119LeufsTer11
NM_198156.2:c.341-3257_341-3253del	NP_937799.1:n.341-3257_341-3253del
XM_011534078.1:c.*34_*38del	XP_011532380.1:n.*34_*38del
NM_001354723.1:c.*18-3257_*18-3253del	NP_001341652.1:n.*18-3257_*18-3253del
NM_000551.4:c.357_361del MANE Select	NP_000542.1:p.Phe119LeufsTer11
NM_001354723.2:c.*18-3257_*18-3253del	NP_001341652.1:n.*18-3257_*18-3253del
NM_198156.3:c.341-3257_341-3253del	NP_937799.1:n.341-3257_341-3253del