Canonical Allele Identifier: CA200818751
Gene: SETX HGNC NCBI

Linked Data

dbSNP Id: rs113804975

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132296778_132296779dup , CM000671.2:g.132296778_132296779dup GRCh38
NC_000009.11:g.135172165_135172166dup , CM000671.1:g.135172165_135172166dup GRCh37
NC_000009.10:g.134161986_134161987dup NCBI36
NG_007946.1:g.63208_63209dup , LRG_268:g.63208_63209dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5949+109_5949+110dup MANE Select ENSP00000224140.5:n.5949+109_5949+110dup
ENST00000224140.5:c.5949+109_5949+110dup ENSP00000224140.5:n.5949+109_5949+110dup
ENST00000436441.5:c.675+109_675+110dup ENSP00000409143.1:n.675+109_675+110dup
NM_015046.5:c.5949+109_5949+110dup , LRG_268t1:c.5949+109_5949+110dup NP_055861.3:n.5949+109_5949+110dup
XM_005272171.1:c.5949+109_5949+110dup XP_005272228.1:n.5949+109_5949+110dup
XM_005272172.1:c.5949+109_5949+110dup XP_005272229.1:n.5949+109_5949+110dup
XM_005272173.1:c.5949+109_5949+110dup XP_005272230.1:n.5949+109_5949+110dup
XM_011518404.1:c.5949+109_5949+110dup XP_011516706.1:n.5949+109_5949+110dup
XM_011518405.1:c.5949+109_5949+110dup XP_011516707.1:n.5949+109_5949+110dup
XM_011518406.1:c.5949+109_5949+110dup XP_011516708.1:n.5949+109_5949+110dup
XM_011518407.1:c.5949+109_5949+110dup XP_011516709.1:n.5949+109_5949+110dup
XM_011518408.1:c.5949+109_5949+110dup XP_011516710.1:n.5949+109_5949+110dup
XR_929739.1:n.5865+109_5865+110dup
NM_001351527.1:c.5949+109_5949+110dup NP_001338456.1:n.5949+109_5949+110dup
NM_001351528.1:c.5949+109_5949+110dup NP_001338457.1:n.5949+109_5949+110dup
NM_015046.6:c.5949+109_5949+110dup NP_055861.3:n.5949+109_5949+110dup
XM_005272172.3:c.5949+109_5949+110dup XP_005272229.1:n.5949+109_5949+110dup
XM_005272173.3:c.5949+109_5949+110dup XP_005272230.1:n.5949+109_5949+110dup
XM_011518404.3:c.5949+109_5949+110dup XP_011516706.1:n.5949+109_5949+110dup
XM_011518405.3:c.5949+109_5949+110dup XP_011516707.1:n.5949+109_5949+110dup
XM_011518406.2:c.5949+109_5949+110dup XP_011516708.1:n.5949+109_5949+110dup
XM_011518408.3:c.5949+109_5949+110dup XP_011516710.1:n.5949+109_5949+110dup
XM_017014496.1:c.402+109_402+110dup XP_016869985.1:n.402+109_402+110dup
XR_001746251.1:n.5504+109_5504+110dup
XR_929739.2:n.5865+109_5865+110dup
NM_015046.7:c.5949+109_5949+110dup MANE Select NP_055861.3:n.5949+109_5949+110dup
NM_001351528.2:c.5949+109_5949+110dup NP_001338457.1:n.5949+109_5949+110dup
NM_001351527.2:c.5949+109_5949+110dup NP_001338456.1:n.5949+109_5949+110dup