Canonical Allele Identifier: CA590947219

Gene: SETX

Linked Data

• dbSNP Id: rs1480764415
• gnomAD v2: 9-135172335-C-CGCCGTAT
• MyVariant Identifiers: chr9:g.135172335_135172336insGCCGTAT (hg19) ; chr9:g.132296948_132296949insGCCGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296948_132296949insGCCGTAT , CM000671.2:g.132296948_132296949insGCCGTAT	GRCh38
NC_000009.11:g.135172335_135172336insGCCGTAT , CM000671.1:g.135172335_135172336insGCCGTAT	GRCh37
NC_000009.10:g.134162156_134162157insGCCGTAT	NCBI36
NG_007946.1:g.63037_63038insATACGGC , LRG_268:g.63037_63038insATACGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5887_5888insATACGGC MANE Select	ENSP00000224140.5:p.Gly1963AspfsTer?
ENST00000224140.5:c.5887_5888insATACGGC	ENSP00000224140.5:p.Gly1963AspfsTer?
ENST00000436441.5:c.613_614insATACGGC	ENSP00000409143.1:p.Gly205AspfsTer?
NM_015046.5:c.5887_5888insATACGGC , LRG_268t1:c.5887_5888insATACGGC	NP_055861.3:p.Gly1963AspfsTer?
XM_005272171.1:c.5887_5888insATACGGC	XP_005272228.1:p.Gly1963AspfsTer?
XM_005272172.1:c.5887_5888insATACGGC	XP_005272229.1:p.Gly1963AspfsTer?
XM_005272173.1:c.5887_5888insATACGGC	XP_005272230.1:p.Gly1963AspfsTer?
XM_011518404.1:c.5887_5888insATACGGC	XP_011516706.1:p.Gly1963AspfsTer?
XM_011518405.1:c.5887_5888insATACGGC	XP_011516707.1:p.Gly1963AspfsTer?
XM_011518406.1:c.5887_5888insATACGGC	XP_011516708.1:p.Gly1963AspfsTer?
XM_011518407.1:c.5887_5888insATACGGC	XP_011516709.1:p.Gly1963AspfsTer?
XM_011518408.1:c.5887_5888insATACGGC	XP_011516710.1:p.Gly1963AspfsTer?
XR_929739.1:n.5803_5804insATACGGC
NM_001351527.1:c.5887_5888insATACGGC	NP_001338456.1:p.Gly1963AspfsTer?
NM_001351528.1:c.5887_5888insATACGGC	NP_001338457.1:p.Gly1963AspfsTer?
NM_015046.6:c.5887_5888insATACGGC	NP_055861.3:p.Gly1963AspfsTer?
XM_005272172.3:c.5887_5888insATACGGC	XP_005272229.1:p.Gly1963AspfsTer?
XM_005272173.3:c.5887_5888insATACGGC	XP_005272230.1:p.Gly1963AspfsTer?
XM_011518404.3:c.5887_5888insATACGGC	XP_011516706.1:p.Gly1963AspfsTer?
XM_011518405.3:c.5887_5888insATACGGC	XP_011516707.1:p.Gly1963AspfsTer?
XM_011518406.2:c.5887_5888insATACGGC	XP_011516708.1:p.Gly1963AspfsTer?
XM_011518408.3:c.5887_5888insATACGGC	XP_011516710.1:p.Gly1963AspfsTer?
XM_017014496.1:c.340_341insATACGGC	XP_016869985.1:p.Gly114AspfsTer?
XR_001746251.1:n.5442_5443insATACGGC
XR_929739.2:n.5803_5804insATACGGC
NM_015046.7:c.5887_5888insATACGGC MANE Select	NP_055861.3:p.Gly1963AspfsTer?
NM_001351528.2:c.5887_5888insATACGGC	NP_001338457.1:p.Gly1963AspfsTer?
NM_001351527.2:c.5887_5888insATACGGC	NP_001338456.1:p.Gly1963AspfsTer?