Canonical Allele Identifier: CA432423139

Gene: VHL

Linked Data

• COSMIC: COSM17778
• MyVariant Identifiers: chr3:g.10191487del (hg19)
• CIViC: CA432423139

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149803del , CM000665.2:g.10149803del	GRCh38
NC_000003.11:g.10191487del , CM000665.1:g.10191487del	GRCh37
NC_000003.10:g.10166487del	NCBI36
NG_008212.3:g.13169del , LRG_322:g.13169del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*157del	ENSP00000512434.1:n.*157del
ENST00000696143.1:c.616del	ENSP00000512435.1:n.616del
ENST00000696153.1:c.591del	ENSP00000512444.1:p.Glu197AspfsTer10
ENST00000256474.3:c.480del MANE Select	ENSP00000256474.3:p.Glu160AspfsTer10
ENST00000256474.2:c.480del	ENSP00000256474.2:p.Glu160AspfsTer10
ENST00000345392.2:c.357del	ENSP00000344757.2:p.Glu119AspfsTer10
ENST00000477538.1:n.616del
NM_000551.3:c.480del , LRG_322t1:c.480del	NP_000542.1:p.Glu160AspfsTer10
NM_198156.2:c.357del	NP_937799.1:p.Glu119AspfsTer10
NM_001354723.1:c.*34del	NP_001341652.1:n.*34del
NM_000551.4:c.480del MANE Select	NP_000542.1:p.Glu160AspfsTer10
NM_001354723.2:c.*34del	NP_001341652.1:n.*34del
NM_198156.3:c.357del	NP_937799.1:p.Glu119AspfsTer10