Canonical Allele Identifier: CA432536401

Gene: VHL

Linked Data

• COSMIC: COSM98461
• MyVariant Identifiers: chr3:g.10183728_10183729insG (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142045dup , CM000665.2:g.10142045dup	GRCh38
NC_000003.11:g.10183729dup , CM000665.1:g.10183729dup	GRCh37
NC_000003.10:g.10158729dup	NCBI36
NG_008212.3:g.5411dup , LRG_322:g.5411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.198dup	ENSP00000512434.1:p.Asn67GlufsTer?
ENST00000696143.1:c.198dup	ENSP00000512435.1:p.Asn67GlufsTer?
ENST00000696153.1:c.198dup	ENSP00000512444.1:p.Asn67GlufsTer?
ENST00000256474.3:c.198dup MANE Select	ENSP00000256474.3:p.Asn67GlufsTer?
ENST00000256474.2:c.198dup	ENSP00000256474.2:p.Asn67GlufsTer?
ENST00000345392.2:c.198dup	ENSP00000344757.2:p.Asn67GlufsTer?
NM_000551.3:c.198dup , LRG_322t1:c.198dup	NP_000542.1:p.Asn67GlufsTer?
NM_198156.2:c.198dup	NP_937799.1:p.Asn67GlufsTer?
XM_011534078.1:c.198dup	XP_011532380.1:p.Asn67GlufsTer?
NM_001354723.1:c.198dup	NP_001341652.1:p.Asn67GlufsTer?
NM_000551.4:c.198dup MANE Select	NP_000542.1:p.Asn67GlufsTer?
NM_001354723.2:c.198dup	NP_001341652.1:p.Asn67GlufsTer?
NM_198156.3:c.198dup	NP_937799.1:p.Asn67GlufsTer?