Canonical Allele Identifier: CA645529598

Gene: VHL

Linked Data

• COSMIC: COSM249353

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149961dup , CM000665.2:g.10149961dup	GRCh38
NC_000003.11:g.10191645dup , CM000665.1:g.10191645dup	GRCh37
NC_000003.10:g.10166645dup	NCBI36
NG_008212.3:g.13327dup , LRG_322:g.13327dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*315dup	ENSP00000512434.1:n.*315dup
ENST00000696143.1:c.774dup	ENSP00000512435.1:n.774dup
ENST00000696153.1:c.749dup	ENSP00000512444.1:p.Asp250GlufsTer?
ENST00000256474.3:c.638dup MANE Select	ENSP00000256474.3:p.Asp213GlufsTer?
ENST00000256474.2:c.638dup	ENSP00000256474.2:p.Asp213GlufsTer?
ENST00000345392.2:c.515dup	ENSP00000344757.2:p.Asp172GlufsTer?
ENST00000477538.1:n.774dup
NM_000551.3:c.638dup , LRG_322t1:c.638dup	NP_000542.1:p.Asp213GlufsTer?
NM_198156.2:c.515dup	NP_937799.1:p.Asp172GlufsTer?
NM_001354723.1:c.*192dup	NP_001341652.1:n.*192dup
NM_000551.4:c.638dup MANE Select	NP_000542.1:p.Asp213GlufsTer?
NM_001354723.2:c.*192dup	NP_001341652.1:n.*192dup
NM_198156.3:c.515dup	NP_937799.1:p.Asp172GlufsTer?