Canonical Allele Identifier: CA2573053118

Gene: SETX

Linked Data

• ClinVar Variation Id: 1341357
• ClinVar RCV Id: RCV001829275
• dbSNP Id: rs2131463325

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132330432_132330434del , CM000671.2:g.132330432_132330434del	GRCh38
NC_000009.11:g.135205819_135205821del , CM000671.1:g.135205819_135205821del	GRCh37
NC_000009.10:g.134195640_134195642del	NCBI36
NG_007946.1:g.29553_29555del , LRG_268:g.29553_29555del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.1165_1167del MANE Select	ENSP00000224140.5:p.Leu389del
ENST00000224140.5:c.1165_1167del	ENSP00000224140.5:p.Leu389del
NM_015046.5:c.1165_1167del , LRG_268t1:c.1165_1167del	NP_055861.3:p.Leu389del
XM_005272171.1:c.1165_1167del	XP_005272228.1:p.Leu389del
XM_005272172.1:c.1165_1167del	XP_005272229.1:p.Leu389del
XM_005272173.1:c.1165_1167del	XP_005272230.1:p.Leu389del
XM_011518404.1:c.1165_1167del	XP_011516706.1:p.Leu389del
XM_011518405.1:c.1165_1167del	XP_011516707.1:p.Leu389del
XM_011518406.1:c.1165_1167del	XP_011516708.1:p.Leu389del
XM_011518407.1:c.1165_1167del	XP_011516709.1:p.Leu389del
XM_011518408.1:c.1165_1167del	XP_011516710.1:p.Leu389del
XR_929739.1:n.1349_1351del
NM_001351527.1:c.1165_1167del	NP_001338456.1:p.Leu389del
NM_001351528.1:c.1165_1167del	NP_001338457.1:p.Leu389del
NM_015046.6:c.1165_1167del	NP_055861.3:p.Leu389del
XM_005272172.3:c.1165_1167del	XP_005272229.1:p.Leu389del
XM_005272173.3:c.1165_1167del	XP_005272230.1:p.Leu389del
XM_011518404.3:c.1165_1167del	XP_011516706.1:p.Leu389del
XM_011518405.3:c.1165_1167del	XP_011516707.1:p.Leu389del
XM_011518406.2:c.1165_1167del	XP_011516708.1:p.Leu389del
XM_011518408.3:c.1165_1167del	XP_011516710.1:p.Leu389del
XR_001746251.1:n.1349_1351del
XR_929739.2:n.1349_1351del
NM_015046.7:c.1165_1167del MANE Select	NP_055861.3:p.Leu389del
NM_001351528.2:c.1165_1167del	NP_001338457.1:p.Leu389del
NM_001351527.2:c.1165_1167del	NP_001338456.1:p.Leu389del