Canonical Allele Identifier: CA918568545
Gene: SETX HGNC NCBI

Linked Data

dbSNP Id: rs398113930

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297184del , CM000671.2:g.132297184del GRCh38
NC_000009.11:g.135172571del , CM000671.1:g.135172571del GRCh37
NC_000009.10:g.134162392del NCBI36
NG_007946.1:g.62803del , LRG_268:g.62803del

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5782-129del MANE Select ENSP00000224140.5:n.5782-129del
ENST00000224140.5:c.5782-129del ENSP00000224140.5:n.5782-129del
ENST00000436441.5:c.508-129del ENSP00000409143.1:n.508-129del
NM_015046.5:c.5782-129del , LRG_268t1:c.5782-129del NP_055861.3:n.5782-129del
XM_005272171.1:c.5782-129del XP_005272228.1:n.5782-129del
XM_005272172.1:c.5782-129del XP_005272229.1:n.5782-129del
XM_005272173.1:c.5782-129del XP_005272230.1:n.5782-129del
XM_011518404.1:c.5782-129del XP_011516706.1:n.5782-129del
XM_011518405.1:c.5782-129del XP_011516707.1:n.5782-129del
XM_011518406.1:c.5782-129del XP_011516708.1:n.5782-129del
XM_011518407.1:c.5782-129del XP_011516709.1:n.5782-129del
XM_011518408.1:c.5782-129del XP_011516710.1:n.5782-129del
XR_929739.1:n.5698-129del
NM_001351527.1:c.5782-129del NP_001338456.1:n.5782-129del
NM_001351528.1:c.5782-129del NP_001338457.1:n.5782-129del
NM_015046.6:c.5782-129del NP_055861.3:n.5782-129del
XM_005272172.3:c.5782-129del XP_005272229.1:n.5782-129del
XM_005272173.3:c.5782-129del XP_005272230.1:n.5782-129del
XM_011518404.3:c.5782-129del XP_011516706.1:n.5782-129del
XM_011518405.3:c.5782-129del XP_011516707.1:n.5782-129del
XM_011518406.2:c.5782-129del XP_011516708.1:n.5782-129del
XM_011518408.3:c.5782-129del XP_011516710.1:n.5782-129del
XM_017014496.1:c.235-129del XP_016869985.1:n.235-129del
XR_001746251.1:n.5337-129del
XR_929739.2:n.5698-129del
NM_015046.7:c.5782-129del MANE Select NP_055861.3:n.5782-129del
NM_001351528.2:c.5782-129del NP_001338457.1:n.5782-129del
NM_001351527.2:c.5782-129del NP_001338456.1:n.5782-129del