Canonical Allele Identifier: CA432421858

Gene: VHL

Linked Data

• MyVariant Identifiers: chr3:g.10188265_10188266insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146582dup , CM000665.2:g.10146582dup	GRCh38
NC_000003.11:g.10188266dup , CM000665.1:g.10188266dup	GRCh37
NC_000003.10:g.10163266dup	NCBI36
NG_008212.3:g.9948dup , LRG_322:g.9948dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*86dup	ENSP00000512434.1:n.*86dup
ENST00000696143.1:c.600-3205dup	ENSP00000512435.1:n.600-3205dup
ENST00000696153.1:c.409dup	ENSP00000512444.1:p.Val137GlyfsTer7
ENST00000256474.3:c.409dup MANE Select	ENSP00000256474.3:p.Val137GlyfsTer7
ENST00000256474.2:c.409dup	ENSP00000256474.2:p.Val137GlyfsTer7
ENST00000345392.2:c.341-3205dup	ENSP00000344757.2:n.341-3205dup
ENST00000477538.1:n.545dup
NM_000551.3:c.409dup , LRG_322t1:c.409dup	NP_000542.1:p.Val137GlyfsTer7
NM_198156.2:c.341-3205dup	NP_937799.1:n.341-3205dup
XM_011534078.1:c.*86dup	XP_011532380.1:n.*86dup
NM_001354723.1:c.*18-3205dup	NP_001341652.1:n.*18-3205dup
NM_000551.4:c.409dup MANE Select	NP_000542.1:p.Val137GlyfsTer7
NM_001354723.2:c.*18-3205dup	NP_001341652.1:n.*18-3205dup
NM_198156.3:c.341-3205dup	NP_937799.1:n.341-3205dup