Canonical Allele Identifier: CA645529578

Gene: VHL

Linked Data

• COSMIC: COSM255079

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149920_10149927del , CM000665.2:g.10149920_10149927del	GRCh38
NC_000003.11:g.10191604_10191611del , CM000665.1:g.10191604_10191611del	GRCh37
NC_000003.10:g.10166604_10166611del	NCBI36
NG_008212.3:g.13286_13293del , LRG_322:g.13286_13293del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*274_*281del	ENSP00000512434.1:n.*274_*281del
ENST00000696143.1:c.733_740del	ENSP00000512435.1:n.733_740del
ENST00000696153.1:c.708_715del	ENSP00000512444.1:p.Glu236AspfsTer?
ENST00000256474.3:c.597_604del MANE Select	ENSP00000256474.3:p.Glu199AspfsTer?
ENST00000256474.2:c.597_604del	ENSP00000256474.2:p.Glu199AspfsTer?
ENST00000345392.2:c.474_481del	ENSP00000344757.2:p.Glu158AspfsTer?
ENST00000477538.1:n.733_740del
NM_000551.3:c.597_604del , LRG_322t1:c.597_604del	NP_000542.1:p.Glu199AspfsTer?
NM_198156.2:c.474_481del	NP_937799.1:p.Glu158AspfsTer?
NM_001354723.1:c.*151_*158del	NP_001341652.1:n.*151_*158del
NM_000551.4:c.597_604del MANE Select	NP_000542.1:p.Glu199AspfsTer?
NM_001354723.2:c.*151_*158del	NP_001341652.1:n.*151_*158del
NM_198156.3:c.474_481del	NP_937799.1:p.Glu158AspfsTer?