Canonical Allele Identifier: CA645524799

Gene: VHL

Linked Data

• COSMIC: COSM34012

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10142127_10142128insGACG , CM000665.2:g.10142127_10142128insGACG	GRCh38
NC_000003.11:g.10183811_10183812insGACG , CM000665.1:g.10183811_10183812insGACG	GRCh37
NC_000003.10:g.10158811_10158812insGACG	NCBI36
NG_008212.3:g.5493_5494insGACG , LRG_322:g.5493_5494insGACG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.280_281insGACG	ENSP00000512434.1:p.Glu94GlyfsTer?
ENST00000696143.1:c.280_281insGACG	ENSP00000512435.1:p.Glu94GlyfsTer?
ENST00000696153.1:c.280_281insGACG	ENSP00000512444.1:p.Glu94GlyfsTer?
ENST00000256474.3:c.280_281insGACG MANE Select	ENSP00000256474.3:p.Glu94GlyfsTer?
ENST00000256474.2:c.280_281insGACG	ENSP00000256474.2:p.Glu94GlyfsTer?
ENST00000345392.2:c.280_281insGACG	ENSP00000344757.2:p.Glu94GlyfsTer?
NM_000551.3:c.280_281insGACG , LRG_322t1:c.280_281insGACG	NP_000542.1:p.Glu94GlyfsTer?
NM_198156.2:c.280_281insGACG	NP_937799.1:p.Glu94GlyfsTer?
XM_011534078.1:c.280_281insGACG	XP_011532380.1:p.Glu94GlyfsTer?
NM_001354723.1:c.280_281insGACG	NP_001341652.1:p.Glu94GlyfsTer?
NM_000551.4:c.280_281insGACG MANE Select	NP_000542.1:p.Glu94GlyfsTer?
NM_001354723.2:c.280_281insGACG	NP_001341652.1:p.Glu94GlyfsTer?
NM_198156.3:c.280_281insGACG	NP_937799.1:p.Glu94GlyfsTer?