Canonical Allele Identifier: CA645529582

Gene: VHL

Linked Data

• ClinVar Variation Id: 1751395
• ClinVar RCV Id: RCV002359943
• COSMIC: COSM30325 ; COSM3358443

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149930_10149931del , CM000665.2:g.10149930_10149931del	GRCh38
NC_000003.11:g.10191614_10191615del , CM000665.1:g.10191614_10191615del	GRCh37
NC_000003.10:g.10166614_10166615del	NCBI36
NG_008212.3:g.13296_13297del , LRG_322:g.13296_13297del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*284_*285del	ENSP00000512434.1:n.*284_*285del
ENST00000696143.1:c.743_744del	ENSP00000512435.1:n.743_744del
ENST00000696153.1:c.718_719del	ENSP00000512444.1:p.Gln240GlyfsTer?
ENST00000256474.3:c.607_608del MANE Select	ENSP00000256474.3:p.Gln203GlyfsTer?
ENST00000256474.2:c.607_608del	ENSP00000256474.2:p.Gln203GlyfsTer?
ENST00000345392.2:c.484_485del	ENSP00000344757.2:p.Gln162GlyfsTer?
ENST00000477538.1:n.743_744del
NM_000551.3:c.607_608del , LRG_322t1:c.607_608del	NP_000542.1:p.Gln203GlyfsTer?
NM_198156.2:c.484_485del	NP_937799.1:p.Gln162GlyfsTer?
NM_001354723.1:c.*161_*162del	NP_001341652.1:n.*161_*162del
NM_000551.4:c.607_608del MANE Select	NP_000542.1:p.Gln203GlyfsTer?
NM_001354723.2:c.*161_*162del	NP_001341652.1:n.*161_*162del
NM_198156.3:c.484_485del	NP_937799.1:p.Gln162GlyfsTer?