Canonical Allele Identifier: CA645525034

Gene: VHL

Linked Data

• COSMIC: COSM1651678

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149791_10149792dup , CM000665.2:g.10149791_10149792dup	GRCh38
NC_000003.11:g.10191475_10191476dup , CM000665.1:g.10191475_10191476dup	GRCh37
NC_000003.10:g.10166475_10166476dup	NCBI36
NG_008212.3:g.13157_13158dup , LRG_322:g.13157_13158dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*145_*146dup	ENSP00000512434.1:n.*145_*146dup
ENST00000696143.1:c.604_605dup	ENSP00000512435.1:n.604_605dup
ENST00000696153.1:c.579_580dup	ENSP00000512444.1:p.Thr194IlefsTer3
ENST00000256474.3:c.468_469dup MANE Select	ENSP00000256474.3:p.Thr157IlefsTer3
ENST00000256474.2:c.468_469dup	ENSP00000256474.2:p.Thr157IlefsTer3
ENST00000345392.2:c.345_346dup	ENSP00000344757.2:p.Thr116IlefsTer3
ENST00000477538.1:n.604_605dup
NM_000551.3:c.468_469dup , LRG_322t1:c.468_469dup	NP_000542.1:p.Thr157IlefsTer3
NM_198156.2:c.345_346dup	NP_937799.1:p.Thr116IlefsTer3
NM_001354723.1:c.*22_*23dup	NP_001341652.1:n.*22_*23dup
NM_000551.4:c.468_469dup MANE Select	NP_000542.1:p.Thr157IlefsTer3
NM_001354723.2:c.*22_*23dup	NP_001341652.1:n.*22_*23dup
NM_198156.3:c.345_346dup	NP_937799.1:p.Thr116IlefsTer3