Canonical Allele Identifier: CA1882092275
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297170_132297171delinsGT , CM000671.2:g.132297170_132297171delinsGT GRCh38
NC_000009.11:g.135172557_135172558delinsGT , CM000671.1:g.135172557_135172558delinsGT GRCh37
NC_000009.10:g.134162378_134162379delinsGT NCBI36
NG_007946.1:g.62815_62816delinsAC , LRG_268:g.62815_62816delinsAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5782-117_5782-116delinsAC MANE Select ENSP00000224140.5:n.5782-117_5782-116delinsAC
ENST00000224140.5:c.5782-117_5782-116delinsAC ENSP00000224140.5:n.5782-117_5782-116delinsAC
ENST00000436441.5:c.508-117_508-116delinsAC ENSP00000409143.1:n.508-117_508-116delinsAC
NM_015046.5:c.5782-117_5782-116delinsAC , LRG_268t1:c.5782-117_5782-116delinsAC NP_055861.3:n.5782-117_5782-116delinsAC
XM_005272171.1:c.5782-117_5782-116delinsAC XP_005272228.1:n.5782-117_5782-116delinsAC
XM_005272172.1:c.5782-117_5782-116delinsAC XP_005272229.1:n.5782-117_5782-116delinsAC
XM_005272173.1:c.5782-117_5782-116delinsAC XP_005272230.1:n.5782-117_5782-116delinsAC
XM_011518404.1:c.5782-117_5782-116delinsAC XP_011516706.1:n.5782-117_5782-116delinsAC
XM_011518405.1:c.5782-117_5782-116delinsAC XP_011516707.1:n.5782-117_5782-116delinsAC
XM_011518406.1:c.5782-117_5782-116delinsAC XP_011516708.1:n.5782-117_5782-116delinsAC
XM_011518407.1:c.5782-117_5782-116delinsAC XP_011516709.1:n.5782-117_5782-116delinsAC
XM_011518408.1:c.5782-117_5782-116delinsAC XP_011516710.1:n.5782-117_5782-116delinsAC
XR_929739.1:n.5698-117_5698-116delinsAC
NM_001351527.1:c.5782-117_5782-116delinsAC NP_001338456.1:n.5782-117_5782-116delinsAC
NM_001351528.1:c.5782-117_5782-116delinsAC NP_001338457.1:n.5782-117_5782-116delinsAC
NM_015046.6:c.5782-117_5782-116delinsAC NP_055861.3:n.5782-117_5782-116delinsAC
XM_005272172.3:c.5782-117_5782-116delinsAC XP_005272229.1:n.5782-117_5782-116delinsAC
XM_005272173.3:c.5782-117_5782-116delinsAC XP_005272230.1:n.5782-117_5782-116delinsAC
XM_011518404.3:c.5782-117_5782-116delinsAC XP_011516706.1:n.5782-117_5782-116delinsAC
XM_011518405.3:c.5782-117_5782-116delinsAC XP_011516707.1:n.5782-117_5782-116delinsAC
XM_011518406.2:c.5782-117_5782-116delinsAC XP_011516708.1:n.5782-117_5782-116delinsAC
XM_011518408.3:c.5782-117_5782-116delinsAC XP_011516710.1:n.5782-117_5782-116delinsAC
XM_017014496.1:c.235-117_235-116delinsAC XP_016869985.1:n.235-117_235-116delinsAC
XR_001746251.1:n.5337-117_5337-116delinsAC
XR_929739.2:n.5698-117_5698-116delinsAC
NM_015046.7:c.5782-117_5782-116delinsAC MANE Select NP_055861.3:n.5782-117_5782-116delinsAC
NM_001351528.2:c.5782-117_5782-116delinsAC NP_001338457.1:n.5782-117_5782-116delinsAC
NM_001351527.2:c.5782-117_5782-116delinsAC NP_001338456.1:n.5782-117_5782-116delinsAC