Canonical Allele Identifier: CA645529523

Gene: VHL

Linked Data

• COSMIC: COSM34015

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149853_10149858delinsC , CM000665.2:g.10149853_10149858delinsC	GRCh38
NC_000003.11:g.10191537_10191542delinsC , CM000665.1:g.10191537_10191542delinsC	GRCh37
NC_000003.10:g.10166537_10166542delinsC	NCBI36
NG_008212.3:g.13219_13224delinsC , LRG_322:g.13219_13224delinsC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*207_*212delinsC	ENSP00000512434.1:n.*207_*212delinsC
ENST00000696143.1:c.666_671delinsC	ENSP00000512435.1:n.666_671delinsC
ENST00000696153.1:c.641_646delinsC	ENSP00000512444.1:p.Arg214ThrfsTer?
ENST00000256474.3:c.530_535delinsC MANE Select	ENSP00000256474.3:p.Arg177ThrfsTer?
ENST00000256474.2:c.530_535delinsC	ENSP00000256474.2:p.Arg177ThrfsTer?
ENST00000345392.2:c.407_412delinsC	ENSP00000344757.2:p.Arg136ThrfsTer?
ENST00000477538.1:n.666_671delinsC
NM_000551.3:c.530_535delinsC , LRG_322t1:c.530_535delinsC	NP_000542.1:p.Arg177ThrfsTer?
NM_198156.2:c.407_412delinsC	NP_937799.1:p.Arg136ThrfsTer?
NM_001354723.1:c.*84_*89delinsC	NP_001341652.1:n.*84_*89delinsC
NM_000551.4:c.530_535delinsC MANE Select	NP_000542.1:p.Arg177ThrfsTer?
NM_001354723.2:c.*84_*89delinsC	NP_001341652.1:n.*84_*89delinsC
NM_198156.3:c.407_412delinsC	NP_937799.1:p.Arg136ThrfsTer?