Canonical Allele Identifier: CA645529583

Gene: VHL

Linked Data

• COSMIC: COSM17924

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149927_10149931del , CM000665.2:g.10149927_10149931del	GRCh38
NC_000003.11:g.10191611_10191615del , CM000665.1:g.10191611_10191615del	GRCh37
NC_000003.10:g.10166611_10166615del	NCBI36
NG_008212.3:g.13293_13297del , LRG_322:g.13293_13297del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*281_*285del	ENSP00000512434.1:n.*281_*285del
ENST00000696143.1:c.740_744del	ENSP00000512435.1:n.740_744del
ENST00000696153.1:c.715_719del	ENSP00000512444.1:p.Thr239GlyfsTer?
ENST00000256474.3:c.604_608del MANE Select	ENSP00000256474.3:p.Thr202GlyfsTer?
ENST00000256474.2:c.604_608del	ENSP00000256474.2:p.Thr202GlyfsTer?
ENST00000345392.2:c.481_485del	ENSP00000344757.2:p.Thr161GlyfsTer?
ENST00000477538.1:n.740_744del
NM_000551.3:c.604_608del , LRG_322t1:c.604_608del	NP_000542.1:p.Thr202GlyfsTer?
NM_198156.2:c.481_485del	NP_937799.1:p.Thr161GlyfsTer?
NM_001354723.1:c.*158_*162del	NP_001341652.1:n.*158_*162del
NM_000551.4:c.604_608del MANE Select	NP_000542.1:p.Thr202GlyfsTer?
NM_001354723.2:c.*158_*162del	NP_001341652.1:n.*158_*162del
NM_198156.3:c.481_485del	NP_937799.1:p.Thr161GlyfsTer?