Canonical Allele Identifier: CA1882092004

Gene: SETX

Linked Data

• ClinVar Variation Id: 1003234
• ClinVar RCV Id: RCV001299763
• dbSNP Id: rs1844702677

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296885_132296888del , CM000671.2:g.132296885_132296888del	GRCh38
NC_000009.11:g.135172272_135172275del , CM000671.1:g.135172272_135172275del	GRCh37
NC_000009.10:g.134162093_134162096del	NCBI36
NG_007946.1:g.63103_63106del , LRG_268:g.63103_63106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5949+4_5949+7del
ENST00000224140.5:c.5949+4_5949+7del
ENST00000436441.5:c.675+4_675+7del
NM_015046.5:c.5949+4_5949+7del , LRG_268t1:c.5949+4_5949+7del
XM_005272171.1:c.5949+4_5949+7del
XM_005272172.1:c.5949+4_5949+7del
XM_005272173.1:c.5949+4_5949+7del
XM_011518404.1:c.5949+4_5949+7del
XM_011518405.1:c.5949+4_5949+7del
XM_011518406.1:c.5949+4_5949+7del
XM_011518407.1:c.5949+4_5949+7del
XM_011518408.1:c.5949+4_5949+7del
XR_929739.1:n.5865+4_5865+7del
NM_001351527.1:c.5949+4_5949+7del
NM_001351528.1:c.5949+4_5949+7del
NM_015046.6:c.5949+4_5949+7del
XM_005272172.3:c.5949+4_5949+7del
XM_005272173.3:c.5949+4_5949+7del
XM_011518404.3:c.5949+4_5949+7del
XM_011518405.3:c.5949+4_5949+7del
XM_011518406.2:c.5949+4_5949+7del
XM_011518408.3:c.5949+4_5949+7del
XM_017014496.1:c.402+4_402+7del
XR_001746251.1:n.5504+4_5504+7del
XR_929739.2:n.5865+4_5865+7del
NM_015046.7:c.5949+4_5949+7del
NM_001351528.2:c.5949+4_5949+7del
NM_001351527.2:c.5949+4_5949+7del