Canonical Allele Identifier: CA432423161

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191490_10191491insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149806_10149807insG , CM000665.2:g.10149806_10149807insG	GRCh38
NC_000003.11:g.10191490_10191491insG , CM000665.1:g.10191490_10191491insG	GRCh37
NC_000003.10:g.10166490_10166491insG	NCBI36
NG_008212.3:g.13172_13173insG , LRG_322:g.13172_13173insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*160_*161insG	ENSP00000512434.1:n.*160_*161insG
ENST00000696143.1:c.619_620insG	ENSP00000512435.1:n.619_620insG
ENST00000696153.1:c.594_595insG	ENSP00000512444.1:p.Cys199ValfsTer12
ENST00000256474.3:c.483_484insG MANE Select	ENSP00000256474.3:p.Cys162ValfsTer12
ENST00000256474.2:c.483_484insG	ENSP00000256474.2:p.Cys162ValfsTer12
ENST00000345392.2:c.360_361insG	ENSP00000344757.2:p.Cys121ValfsTer12
ENST00000477538.1:n.619_620insG
NM_000551.3:c.483_484insG , LRG_322t1:c.483_484insG	NP_000542.1:p.Cys162ValfsTer12
NM_198156.2:c.360_361insG	NP_937799.1:p.Cys121ValfsTer12
NM_001354723.1:c.*37_*38insG	NP_001341652.1:n.*37_*38insG
NM_000551.4:c.483_484insG MANE Select	NP_000542.1:p.Cys162ValfsTer12
NM_001354723.2:c.*37_*38insG	NP_001341652.1:n.*37_*38insG
NM_198156.3:c.360_361insG	NP_937799.1:p.Cys121ValfsTer12