Canonical Allele Identifier: CA432423440

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191531_10191532insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149847_10149848insT , CM000665.2:g.10149847_10149848insT	GRCh38
NC_000003.11:g.10191531_10191532insT , CM000665.1:g.10191531_10191532insT	GRCh37
NC_000003.10:g.10166531_10166532insT	NCBI36
NG_008212.3:g.13213_13214insT , LRG_322:g.13213_13214insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*201_*202insT	ENSP00000512434.1:n.*201_*202insT
ENST00000696143.1:c.660_661insT	ENSP00000512435.1:n.660_661insT
ENST00000696153.1:c.635_636insT	ENSP00000512444.1:p.Arg213GlnfsTer?
ENST00000256474.3:c.524_525insT MANE Select	ENSP00000256474.3:p.Arg176GlnfsTer?
ENST00000256474.2:c.524_525insT	ENSP00000256474.2:p.Arg176GlnfsTer?
ENST00000345392.2:c.401_402insT	ENSP00000344757.2:p.Arg135GlnfsTer?
ENST00000477538.1:n.660_661insT
NM_000551.3:c.524_525insT , LRG_322t1:c.524_525insT	NP_000542.1:p.Arg176GlnfsTer?
NM_198156.2:c.401_402insT	NP_937799.1:p.Arg135GlnfsTer?
NM_001354723.1:c.*78_*79insT	NP_001341652.1:n.*78_*79insT
NM_000551.4:c.524_525insT MANE Select	NP_000542.1:p.Arg176GlnfsTer?
NM_001354723.2:c.*78_*79insT	NP_001341652.1:n.*78_*79insT
NM_198156.3:c.401_402insT	NP_937799.1:p.Arg135GlnfsTer?