Canonical Allele Identifier: CA1882092283
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132297178_132297183delinsCAGACA , CM000671.2:g.132297178_132297183delinsCAGACA GRCh38
NC_000009.11:g.135172565_135172570delinsCAGACA , CM000671.1:g.135172565_135172570delinsCAGACA GRCh37
NC_000009.10:g.134162386_134162391delinsCAGACA NCBI36
NG_007946.1:g.62803_62808delinsTGTCTG , LRG_268:g.62803_62808delinsTGTCTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5782-129_5782-124delinsTGTCTG MANE Select ENSP00000224140.5:n.5782-129_5782-124delinsTGTCTG
ENST00000224140.5:c.5782-129_5782-124delinsTGTCTG ENSP00000224140.5:n.5782-129_5782-124delinsTGTCTG
ENST00000436441.5:c.508-129_508-124delinsTGTCTG ENSP00000409143.1:n.508-129_508-124delinsTGTCTG
NM_015046.5:c.5782-129_5782-124delinsTGTCTG , LRG_268t1:c.5782-129_5782-124delinsTGTCTG NP_055861.3:n.5782-129_5782-124delinsTGTCTG
XM_005272171.1:c.5782-129_5782-124delinsTGTCTG XP_005272228.1:n.5782-129_5782-124delinsTGTCTG
XM_005272172.1:c.5782-129_5782-124delinsTGTCTG XP_005272229.1:n.5782-129_5782-124delinsTGTCTG
XM_005272173.1:c.5782-129_5782-124delinsTGTCTG XP_005272230.1:n.5782-129_5782-124delinsTGTCTG
XM_011518404.1:c.5782-129_5782-124delinsTGTCTG XP_011516706.1:n.5782-129_5782-124delinsTGTCTG
XM_011518405.1:c.5782-129_5782-124delinsTGTCTG XP_011516707.1:n.5782-129_5782-124delinsTGTCTG
XM_011518406.1:c.5782-129_5782-124delinsTGTCTG XP_011516708.1:n.5782-129_5782-124delinsTGTCTG
XM_011518407.1:c.5782-129_5782-124delinsTGTCTG XP_011516709.1:n.5782-129_5782-124delinsTGTCTG
XM_011518408.1:c.5782-129_5782-124delinsTGTCTG XP_011516710.1:n.5782-129_5782-124delinsTGTCTG
XR_929739.1:n.5698-129_5698-124delinsTGTCTG
NM_001351527.1:c.5782-129_5782-124delinsTGTCTG NP_001338456.1:n.5782-129_5782-124delinsTGTCTG
NM_001351528.1:c.5782-129_5782-124delinsTGTCTG NP_001338457.1:n.5782-129_5782-124delinsTGTCTG
NM_015046.6:c.5782-129_5782-124delinsTGTCTG NP_055861.3:n.5782-129_5782-124delinsTGTCTG
XM_005272172.3:c.5782-129_5782-124delinsTGTCTG XP_005272229.1:n.5782-129_5782-124delinsTGTCTG
XM_005272173.3:c.5782-129_5782-124delinsTGTCTG XP_005272230.1:n.5782-129_5782-124delinsTGTCTG
XM_011518404.3:c.5782-129_5782-124delinsTGTCTG XP_011516706.1:n.5782-129_5782-124delinsTGTCTG
XM_011518405.3:c.5782-129_5782-124delinsTGTCTG XP_011516707.1:n.5782-129_5782-124delinsTGTCTG
XM_011518406.2:c.5782-129_5782-124delinsTGTCTG XP_011516708.1:n.5782-129_5782-124delinsTGTCTG
XM_011518408.3:c.5782-129_5782-124delinsTGTCTG XP_011516710.1:n.5782-129_5782-124delinsTGTCTG
XM_017014496.1:c.235-129_235-124delinsTGTCTG XP_016869985.1:n.235-129_235-124delinsTGTCTG
XR_001746251.1:n.5337-129_5337-124delinsTGTCTG
XR_929739.2:n.5698-129_5698-124delinsTGTCTG
NM_015046.7:c.5782-129_5782-124delinsTGTCTG MANE Select NP_055861.3:n.5782-129_5782-124delinsTGTCTG
NM_001351528.2:c.5782-129_5782-124delinsTGTCTG NP_001338457.1:n.5782-129_5782-124delinsTGTCTG
NM_001351527.2:c.5782-129_5782-124delinsTGTCTG NP_001338456.1:n.5782-129_5782-124delinsTGTCTG