Canonical Allele Identifier: CA276162

Gene: SETX

Linked Data

• ClinVar Variation Id: 209188
• ClinVar RCV Id: RCV000191126 ; RCV001795311
• dbSNP Id: rs797045067
• MyVariant Identifiers: chr9:g.135172393_135172402del (hg19) ; chr9:g.132297006_132297015del (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132297011_132297020del , CM000671.2:g.132297011_132297020del	GRCh38
NC_000009.11:g.135172398_135172407del , CM000671.1:g.135172398_135172407del	GRCh37
NC_000009.10:g.134162219_134162228del	NCBI36
NG_007946.1:g.62971_62980del , LRG_268:g.62971_62980del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5821_5830del MANE Select	ENSP00000224140.5:p.Ala1941LeufsTer6
ENST00000224140.5:c.5821_5830del	ENSP00000224140.5:p.Ala1941LeufsTer6
ENST00000436441.5:c.547_556del	ENSP00000409143.1:p.Ala183LeufsTer6
NM_015046.5:c.5821_5830del , LRG_268t1:c.5821_5830del	NP_055861.3:p.Ala1941LeufsTer6
XM_005272171.1:c.5821_5830del	XP_005272228.1:p.Ala1941LeufsTer6
XM_005272172.1:c.5821_5830del	XP_005272229.1:p.Ala1941LeufsTer6
XM_005272173.1:c.5821_5830del	XP_005272230.1:p.Ala1941LeufsTer6
XM_011518404.1:c.5821_5830del	XP_011516706.1:p.Ala1941LeufsTer6
XM_011518405.1:c.5821_5830del	XP_011516707.1:p.Ala1941LeufsTer6
XM_011518406.1:c.5821_5830del	XP_011516708.1:p.Ala1941LeufsTer6
XM_011518407.1:c.5821_5830del	XP_011516709.1:p.Ala1941LeufsTer6
XM_011518408.1:c.5821_5830del	XP_011516710.1:p.Ala1941LeufsTer6
XR_929739.1:n.5737_5746del
NM_001351527.1:c.5821_5830del	NP_001338456.1:p.Ala1941LeufsTer6
NM_001351528.1:c.5821_5830del	NP_001338457.1:p.Ala1941LeufsTer6
NM_015046.6:c.5821_5830del	NP_055861.3:p.Ala1941LeufsTer6
XM_005272172.3:c.5821_5830del	XP_005272229.1:p.Ala1941LeufsTer6
XM_005272173.3:c.5821_5830del	XP_005272230.1:p.Ala1941LeufsTer6
XM_011518404.3:c.5821_5830del	XP_011516706.1:p.Ala1941LeufsTer6
XM_011518405.3:c.5821_5830del	XP_011516707.1:p.Ala1941LeufsTer6
XM_011518406.2:c.5821_5830del	XP_011516708.1:p.Ala1941LeufsTer6
XM_011518408.3:c.5821_5830del	XP_011516710.1:p.Ala1941LeufsTer6
XM_017014496.1:c.274_283del	XP_016869985.1:p.Ala92LeufsTer6
XR_001746251.1:n.5376_5385del
XR_929739.2:n.5737_5746del
NM_015046.7:c.5821_5830del MANE Select	NP_055861.3:p.Ala1941LeufsTer6
NM_001351528.2:c.5821_5830del	NP_001338457.1:p.Ala1941LeufsTer6
NM_001351527.2:c.5821_5830del	NP_001338456.1:p.Ala1941LeufsTer6