Canonical Allele Identifier: CA645529579

Gene: VHL

Linked Data

• COSMIC: COSM4770544

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149921del , CM000665.2:g.10149921del	GRCh38
NC_000003.11:g.10191605del , CM000665.1:g.10191605del	GRCh37
NC_000003.10:g.10166605del	NCBI36
NG_008212.3:g.13287del , LRG_322:g.13287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*275del	ENSP00000512434.1:n.*275del
ENST00000696143.1:c.734del	ENSP00000512435.1:n.734del
ENST00000696153.1:c.709del	ENSP00000512444.1:p.Arg237GlyfsTer2
ENST00000256474.3:c.598del MANE Select	ENSP00000256474.3:p.Arg200GlyfsTer2
ENST00000256474.2:c.598del	ENSP00000256474.2:p.Arg200GlyfsTer2
ENST00000345392.2:c.475del	ENSP00000344757.2:p.Arg159GlyfsTer2
ENST00000477538.1:n.734del
NM_000551.3:c.598del , LRG_322t1:c.598del	NP_000542.1:p.Arg200GlyfsTer2
NM_198156.2:c.475del	NP_937799.1:p.Arg159GlyfsTer2
NM_001354723.1:c.*152del	NP_001341652.1:n.*152del
NM_000551.4:c.598del MANE Select	NP_000542.1:p.Arg200GlyfsTer2
NM_001354723.2:c.*152del	NP_001341652.1:n.*152del
NM_198156.3:c.475del	NP_937799.1:p.Arg159GlyfsTer2