Canonical Allele Identifier: CA432421792

Gene: VHL

Linked Data

• COSMIC: COSM18150
• MyVariant Identifiers: chr3:g.10188207_10188208insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146524dup , CM000665.2:g.10146524dup	GRCh38
NC_000003.11:g.10188208dup , CM000665.1:g.10188208dup	GRCh37
NC_000003.10:g.10163208dup	NCBI36
NG_008212.3:g.9890dup , LRG_322:g.9890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*28dup	ENSP00000512434.1:n.*28dup
ENST00000696143.1:c.600-3263dup	ENSP00000512435.1:n.600-3263dup
ENST00000696153.1:c.351dup	ENSP00000512444.1:p.Leu118AlafsTer14
ENST00000256474.3:c.351dup MANE Select	ENSP00000256474.3:p.Leu118AlafsTer14
ENST00000256474.2:c.351dup	ENSP00000256474.2:p.Leu118AlafsTer14
ENST00000345392.2:c.341-3263dup	ENSP00000344757.2:n.341-3263dup
ENST00000477538.1:n.487dup
NM_000551.3:c.351dup , LRG_322t1:c.351dup	NP_000542.1:p.Leu118AlafsTer14
NM_198156.2:c.341-3263dup	NP_937799.1:n.341-3263dup
XM_011534078.1:c.*28dup	XP_011532380.1:n.*28dup
NM_001354723.1:c.*18-3263dup	NP_001341652.1:n.*18-3263dup
NM_000551.4:c.351dup MANE Select	NP_000542.1:p.Leu118AlafsTer14
NM_001354723.2:c.*18-3263dup	NP_001341652.1:n.*18-3263dup
NM_198156.3:c.341-3263dup	NP_937799.1:n.341-3263dup