Canonical Allele Identifier: CA645525051

Gene: VHL

Linked Data

• COSMIC: COSM14357

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149800_10149802del , CM000665.2:g.10149800_10149802del	GRCh38
NC_000003.11:g.10191484_10191486del , CM000665.1:g.10191484_10191486del	GRCh37
NC_000003.10:g.10166484_10166486del	NCBI36
NG_008212.3:g.13166_13168del , LRG_322:g.13166_13168del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*154_*156del	ENSP00000512434.1:n.*154_*156del
ENST00000696143.1:c.613_615del	ENSP00000512435.1:n.613_615del
ENST00000696153.1:c.588_590del	ENSP00000512444.1:p.Glu197del
ENST00000256474.3:c.477_479del MANE Select	ENSP00000256474.3:p.Glu160del
ENST00000256474.2:c.477_479del	ENSP00000256474.2:p.Glu160del
ENST00000345392.2:c.354_356del	ENSP00000344757.2:p.Glu119del
ENST00000477538.1:n.613_615del
NM_000551.3:c.477_479del , LRG_322t1:c.477_479del	NP_000542.1:p.Glu160del
NM_198156.2:c.354_356del	NP_937799.1:p.Glu119del
NM_001354723.1:c.*31_*33del	NP_001341652.1:n.*31_*33del
NM_000551.4:c.477_479del MANE Select	NP_000542.1:p.Glu160del
NM_001354723.2:c.*31_*33del	NP_001341652.1:n.*31_*33del
NM_198156.3:c.354_356del	NP_937799.1:p.Glu119del