Canonical Allele Identifier: CA1882092274
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297159_132297160delinsCA , CM000671.2:g.132297159_132297160delinsCA GRCh38
NC_000009.11:g.135172546_135172547delinsCA , CM000671.1:g.135172546_135172547delinsCA GRCh37
NC_000009.10:g.134162367_134162368delinsCA NCBI36
NG_007946.1:g.62826_62827delinsTG , LRG_268:g.62826_62827delinsTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5782-106_5782-105delinsTG MANE Select ENSP00000224140.5:n.5782-106_5782-105delinsTG
ENST00000224140.5:c.5782-106_5782-105delinsTG ENSP00000224140.5:n.5782-106_5782-105delinsTG
ENST00000436441.5:c.508-106_508-105delinsTG ENSP00000409143.1:n.508-106_508-105delinsTG
NM_015046.5:c.5782-106_5782-105delinsTG , LRG_268t1:c.5782-106_5782-105delinsTG NP_055861.3:n.5782-106_5782-105delinsTG
XM_005272171.1:c.5782-106_5782-105delinsTG XP_005272228.1:n.5782-106_5782-105delinsTG
XM_005272172.1:c.5782-106_5782-105delinsTG XP_005272229.1:n.5782-106_5782-105delinsTG
XM_005272173.1:c.5782-106_5782-105delinsTG XP_005272230.1:n.5782-106_5782-105delinsTG
XM_011518404.1:c.5782-106_5782-105delinsTG XP_011516706.1:n.5782-106_5782-105delinsTG
XM_011518405.1:c.5782-106_5782-105delinsTG XP_011516707.1:n.5782-106_5782-105delinsTG
XM_011518406.1:c.5782-106_5782-105delinsTG XP_011516708.1:n.5782-106_5782-105delinsTG
XM_011518407.1:c.5782-106_5782-105delinsTG XP_011516709.1:n.5782-106_5782-105delinsTG
XM_011518408.1:c.5782-106_5782-105delinsTG XP_011516710.1:n.5782-106_5782-105delinsTG
XR_929739.1:n.5698-106_5698-105delinsTG
NM_001351527.1:c.5782-106_5782-105delinsTG NP_001338456.1:n.5782-106_5782-105delinsTG
NM_001351528.1:c.5782-106_5782-105delinsTG NP_001338457.1:n.5782-106_5782-105delinsTG
NM_015046.6:c.5782-106_5782-105delinsTG NP_055861.3:n.5782-106_5782-105delinsTG
XM_005272172.3:c.5782-106_5782-105delinsTG XP_005272229.1:n.5782-106_5782-105delinsTG
XM_005272173.3:c.5782-106_5782-105delinsTG XP_005272230.1:n.5782-106_5782-105delinsTG
XM_011518404.3:c.5782-106_5782-105delinsTG XP_011516706.1:n.5782-106_5782-105delinsTG
XM_011518405.3:c.5782-106_5782-105delinsTG XP_011516707.1:n.5782-106_5782-105delinsTG
XM_011518406.2:c.5782-106_5782-105delinsTG XP_011516708.1:n.5782-106_5782-105delinsTG
XM_011518408.3:c.5782-106_5782-105delinsTG XP_011516710.1:n.5782-106_5782-105delinsTG
XM_017014496.1:c.235-106_235-105delinsTG XP_016869985.1:n.235-106_235-105delinsTG
XR_001746251.1:n.5337-106_5337-105delinsTG
XR_929739.2:n.5698-106_5698-105delinsTG
NM_015046.7:c.5782-106_5782-105delinsTG MANE Select NP_055861.3:n.5782-106_5782-105delinsTG
NM_001351528.2:c.5782-106_5782-105delinsTG NP_001338457.1:n.5782-106_5782-105delinsTG
NM_001351527.2:c.5782-106_5782-105delinsTG NP_001338456.1:n.5782-106_5782-105delinsTG