Canonical Allele Identifier: CA1882091885
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132296751_132296752delinsAG , CM000671.2:g.132296751_132296752delinsAG GRCh38
NC_000009.11:g.135172138_135172139delinsAG , CM000671.1:g.135172138_135172139delinsAG GRCh37
NC_000009.10:g.134161959_134161960delinsAG NCBI36
NG_007946.1:g.63234_63235delinsCT , LRG_268:g.63234_63235delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5949+135_5949+136delinsCT MANE Select ENSP00000224140.5:n.5949+135_5949+136delinsCT
ENST00000224140.5:c.5949+135_5949+136delinsCT ENSP00000224140.5:n.5949+135_5949+136delinsCT
ENST00000436441.5:c.675+135_675+136delinsCT ENSP00000409143.1:n.675+135_675+136delinsCT
NM_015046.5:c.5949+135_5949+136delinsCT , LRG_268t1:c.5949+135_5949+136delinsCT NP_055861.3:n.5949+135_5949+136delinsCT
XM_005272171.1:c.5949+135_5949+136delinsCT XP_005272228.1:n.5949+135_5949+136delinsCT
XM_005272172.1:c.5949+135_5949+136delinsCT XP_005272229.1:n.5949+135_5949+136delinsCT
XM_005272173.1:c.5949+135_5949+136delinsCT XP_005272230.1:n.5949+135_5949+136delinsCT
XM_011518404.1:c.5949+135_5949+136delinsCT XP_011516706.1:n.5949+135_5949+136delinsCT
XM_011518405.1:c.5949+135_5949+136delinsCT XP_011516707.1:n.5949+135_5949+136delinsCT
XM_011518406.1:c.5949+135_5949+136delinsCT XP_011516708.1:n.5949+135_5949+136delinsCT
XM_011518407.1:c.5949+135_5949+136delinsCT XP_011516709.1:n.5949+135_5949+136delinsCT
XM_011518408.1:c.5949+135_5949+136delinsCT XP_011516710.1:n.5949+135_5949+136delinsCT
XR_929739.1:n.5865+135_5865+136delinsCT
NM_001351527.1:c.5949+135_5949+136delinsCT NP_001338456.1:n.5949+135_5949+136delinsCT
NM_001351528.1:c.5949+135_5949+136delinsCT NP_001338457.1:n.5949+135_5949+136delinsCT
NM_015046.6:c.5949+135_5949+136delinsCT NP_055861.3:n.5949+135_5949+136delinsCT
XM_005272172.3:c.5949+135_5949+136delinsCT XP_005272229.1:n.5949+135_5949+136delinsCT
XM_005272173.3:c.5949+135_5949+136delinsCT XP_005272230.1:n.5949+135_5949+136delinsCT
XM_011518404.3:c.5949+135_5949+136delinsCT XP_011516706.1:n.5949+135_5949+136delinsCT
XM_011518405.3:c.5949+135_5949+136delinsCT XP_011516707.1:n.5949+135_5949+136delinsCT
XM_011518406.2:c.5949+135_5949+136delinsCT XP_011516708.1:n.5949+135_5949+136delinsCT
XM_011518408.3:c.5949+135_5949+136delinsCT XP_011516710.1:n.5949+135_5949+136delinsCT
XM_017014496.1:c.402+135_402+136delinsCT XP_016869985.1:n.402+135_402+136delinsCT
XR_001746251.1:n.5504+135_5504+136delinsCT
XR_929739.2:n.5865+135_5865+136delinsCT
NM_015046.7:c.5949+135_5949+136delinsCT MANE Select NP_055861.3:n.5949+135_5949+136delinsCT
NM_001351528.2:c.5949+135_5949+136delinsCT NP_001338457.1:n.5949+135_5949+136delinsCT
NM_001351527.2:c.5949+135_5949+136delinsCT NP_001338456.1:n.5949+135_5949+136delinsCT