Canonical Allele Identifier: CA1882092284
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297182_132297183delinsCA , CM000671.2:g.132297182_132297183delinsCA GRCh38
NC_000009.11:g.135172569_135172570delinsCA , CM000671.1:g.135172569_135172570delinsCA GRCh37
NC_000009.10:g.134162390_134162391delinsCA NCBI36
NG_007946.1:g.62803_62804delinsTG , LRG_268:g.62803_62804delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5782-129_5782-128delinsTG MANE Select ENSP00000224140.5:n.5782-129_5782-128delinsTG
ENST00000224140.5:c.5782-129_5782-128delinsTG ENSP00000224140.5:n.5782-129_5782-128delinsTG
ENST00000436441.5:c.508-129_508-128delinsTG ENSP00000409143.1:n.508-129_508-128delinsTG
NM_015046.5:c.5782-129_5782-128delinsTG , LRG_268t1:c.5782-129_5782-128delinsTG NP_055861.3:n.5782-129_5782-128delinsTG
XM_005272171.1:c.5782-129_5782-128delinsTG XP_005272228.1:n.5782-129_5782-128delinsTG
XM_005272172.1:c.5782-129_5782-128delinsTG XP_005272229.1:n.5782-129_5782-128delinsTG
XM_005272173.1:c.5782-129_5782-128delinsTG XP_005272230.1:n.5782-129_5782-128delinsTG
XM_011518404.1:c.5782-129_5782-128delinsTG XP_011516706.1:n.5782-129_5782-128delinsTG
XM_011518405.1:c.5782-129_5782-128delinsTG XP_011516707.1:n.5782-129_5782-128delinsTG
XM_011518406.1:c.5782-129_5782-128delinsTG XP_011516708.1:n.5782-129_5782-128delinsTG
XM_011518407.1:c.5782-129_5782-128delinsTG XP_011516709.1:n.5782-129_5782-128delinsTG
XM_011518408.1:c.5782-129_5782-128delinsTG XP_011516710.1:n.5782-129_5782-128delinsTG
XR_929739.1:n.5698-129_5698-128delinsTG
NM_001351527.1:c.5782-129_5782-128delinsTG NP_001338456.1:n.5782-129_5782-128delinsTG
NM_001351528.1:c.5782-129_5782-128delinsTG NP_001338457.1:n.5782-129_5782-128delinsTG
NM_015046.6:c.5782-129_5782-128delinsTG NP_055861.3:n.5782-129_5782-128delinsTG
XM_005272172.3:c.5782-129_5782-128delinsTG XP_005272229.1:n.5782-129_5782-128delinsTG
XM_005272173.3:c.5782-129_5782-128delinsTG XP_005272230.1:n.5782-129_5782-128delinsTG
XM_011518404.3:c.5782-129_5782-128delinsTG XP_011516706.1:n.5782-129_5782-128delinsTG
XM_011518405.3:c.5782-129_5782-128delinsTG XP_011516707.1:n.5782-129_5782-128delinsTG
XM_011518406.2:c.5782-129_5782-128delinsTG XP_011516708.1:n.5782-129_5782-128delinsTG
XM_011518408.3:c.5782-129_5782-128delinsTG XP_011516710.1:n.5782-129_5782-128delinsTG
XM_017014496.1:c.235-129_235-128delinsTG XP_016869985.1:n.235-129_235-128delinsTG
XR_001746251.1:n.5337-129_5337-128delinsTG
XR_929739.2:n.5698-129_5698-128delinsTG
NM_015046.7:c.5782-129_5782-128delinsTG MANE Select NP_055861.3:n.5782-129_5782-128delinsTG
NM_001351528.2:c.5782-129_5782-128delinsTG NP_001338457.1:n.5782-129_5782-128delinsTG
NM_001351527.2:c.5782-129_5782-128delinsTG NP_001338456.1:n.5782-129_5782-128delinsTG