Canonical Allele Identifier: CA432423143

Gene: VHL

Linked Data

• COSMIC: COSM14434
• MyVariant Identifiers: chr3:g.10191488_10191489insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149804dup , CM000665.2:g.10149804dup	GRCh38
NC_000003.11:g.10191488dup , CM000665.1:g.10191488dup	GRCh37
NC_000003.10:g.10166488dup	NCBI36
NG_008212.3:g.13170dup , LRG_322:g.13170dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696142.1:c.*158dup	ENSP00000512434.1:n.*158dup
ENST00000696143.1:c.617dup	ENSP00000512435.1:n.617dup
ENST00000696153.1:c.592dup	ENSP00000512444.1:p.Arg198ProfsTer13
ENST00000256474.3:c.481dup MANE Select	ENSP00000256474.3:p.Arg161ProfsTer13
ENST00000256474.2:c.481dup	ENSP00000256474.2:p.Arg161ProfsTer13
ENST00000345392.2:c.358dup	ENSP00000344757.2:p.Arg120ProfsTer13
ENST00000477538.1:n.617dup
NM_000551.3:c.481dup , LRG_322t1:c.481dup	NP_000542.1:p.Arg161ProfsTer13
NM_198156.2:c.358dup	NP_937799.1:p.Arg120ProfsTer13
NM_001354723.1:c.*35dup	NP_001341652.1:n.*35dup
NM_000551.4:c.481dup MANE Select	NP_000542.1:p.Arg161ProfsTer13
NM_001354723.2:c.*35dup	NP_001341652.1:n.*35dup
NM_198156.3:c.358dup	NP_937799.1:p.Arg120ProfsTer13