Canonical Allele Identifier: CA432423549

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10191547_10191548insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10149864dup , CM000665.2:g.10149864dup	GRCh38
NC_000003.11:g.10191548dup , CM000665.1:g.10191548dup	GRCh37
NC_000003.10:g.10166548dup	NCBI36
NG_008212.3:g.13230dup , LRG_322:g.13230dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*218dup	ENSP00000512434.1:n.*218dup
ENST00000696143.1:c.677dup	ENSP00000512435.1:n.677dup
ENST00000696153.1:c.652dup	ENSP00000512444.1:p.Val218GlyfsTer?
ENST00000256474.3:c.541dup MANE Select	ENSP00000256474.3:p.Val181GlyfsTer?
ENST00000256474.2:c.541dup	ENSP00000256474.2:p.Val181GlyfsTer?
ENST00000345392.2:c.418dup	ENSP00000344757.2:p.Val140GlyfsTer?
ENST00000477538.1:n.677dup
NM_000551.3:c.541dup , LRG_322t1:c.541dup	NP_000542.1:p.Val181GlyfsTer?
NM_198156.2:c.418dup	NP_937799.1:p.Val140GlyfsTer?
NM_001354723.1:c.*95dup	NP_001341652.1:n.*95dup
NM_000551.4:c.541dup MANE Select	NP_000542.1:p.Val181GlyfsTer?
NM_001354723.2:c.*95dup	NP_001341652.1:n.*95dup
NM_198156.3:c.418dup	NP_937799.1:p.Val140GlyfsTer?