Canonical Allele Identifier: CA645525055

Gene: VHL

Linked Data

• COSMIC: COSM36347

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149801delinsTC , CM000665.2:g.10149801delinsTC	GRCh38
NC_000003.11:g.10191485delinsTC , CM000665.1:g.10191485delinsTC	GRCh37
NC_000003.10:g.10166485delinsTC	NCBI36
NG_008212.3:g.13167delinsTC , LRG_322:g.13167delinsTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*155delinsTC	ENSP00000512434.1:n.*155delinsTC
ENST00000696143.1:c.614delinsTC	ENSP00000512435.1:n.614delinsTC
ENST00000696153.1:c.589delinsTC	ENSP00000512444.1:p.Glu197SerfsTer14
ENST00000256474.3:c.478delinsTC MANE Select	ENSP00000256474.3:p.Glu160SerfsTer14
ENST00000256474.2:c.478delinsTC	ENSP00000256474.2:p.Glu160SerfsTer14
ENST00000345392.2:c.355delinsTC	ENSP00000344757.2:p.Glu119SerfsTer14
ENST00000477538.1:n.614delinsTC
NM_000551.3:c.478delinsTC , LRG_322t1:c.478delinsTC	NP_000542.1:p.Glu160SerfsTer14
NM_198156.2:c.355delinsTC	NP_937799.1:p.Glu119SerfsTer14
NM_001354723.1:c.*32delinsTC	NP_001341652.1:n.*32delinsTC
NM_000551.4:c.478delinsTC MANE Select	NP_000542.1:p.Glu160SerfsTer14
NM_001354723.2:c.*32delinsTC	NP_001341652.1:n.*32delinsTC
NM_198156.3:c.355delinsTC	NP_937799.1:p.Glu119SerfsTer14