Canonical Allele Identifier: CA432423500

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191540_10191541insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149856_10149857insC , CM000665.2:g.10149856_10149857insC	GRCh38
NC_000003.11:g.10191540_10191541insC , CM000665.1:g.10191540_10191541insC	GRCh37
NC_000003.10:g.10166540_10166541insC	NCBI36
NG_008212.3:g.13222_13223insC , LRG_322:g.13222_13223insC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*210_*211insC	ENSP00000512434.1:n.*210_*211insC
ENST00000696143.1:c.669_670insC	ENSP00000512435.1:n.669_670insC
ENST00000696153.1:c.644_645insC	ENSP00000512444.1:p.Asp216GlyfsTer?
ENST00000256474.3:c.533_534insC MANE Select	ENSP00000256474.3:p.Asp179GlyfsTer?
ENST00000256474.2:c.533_534insC	ENSP00000256474.2:p.Asp179GlyfsTer?
ENST00000345392.2:c.410_411insC	ENSP00000344757.2:p.Asp138GlyfsTer?
ENST00000477538.1:n.669_670insC
NM_000551.3:c.533_534insC , LRG_322t1:c.533_534insC	NP_000542.1:p.Asp179GlyfsTer?
NM_198156.2:c.410_411insC	NP_937799.1:p.Asp138GlyfsTer?
NM_001354723.1:c.*87_*88insC	NP_001341652.1:n.*87_*88insC
NM_000551.4:c.533_534insC MANE Select	NP_000542.1:p.Asp179GlyfsTer?
NM_001354723.2:c.*87_*88insC	NP_001341652.1:n.*87_*88insC
NM_198156.3:c.410_411insC	NP_937799.1:p.Asp138GlyfsTer?