Canonical Allele Identifier: CA1882091946
Gene: SETX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132296824_132296829delinsTAACTC , CM000671.2:g.132296824_132296829delinsTAACTC GRCh38
NC_000009.11:g.135172211_135172216delinsTAACTC , CM000671.1:g.135172211_135172216delinsTAACTC GRCh37
NC_000009.10:g.134162032_134162037delinsTAACTC NCBI36
NG_007946.1:g.63157_63162delinsGAGTTA , LRG_268:g.63157_63162delinsGAGTTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000224140.6:c.5949+58_5949+63delinsGAGTTA MANE Select ENSP00000224140.5:n.5949+58_5949+63delinsGAGTTA
ENST00000224140.5:c.5949+58_5949+63delinsGAGTTA ENSP00000224140.5:n.5949+58_5949+63delinsGAGTTA
ENST00000436441.5:c.675+58_675+63delinsGAGTTA ENSP00000409143.1:n.675+58_675+63delinsGAGTTA
NM_015046.5:c.5949+58_5949+63delinsGAGTTA , LRG_268t1:c.5949+58_5949+63delinsGAGTTA NP_055861.3:n.5949+58_5949+63delinsGAGTTA
XM_005272171.1:c.5949+58_5949+63delinsGAGTTA XP_005272228.1:n.5949+58_5949+63delinsGAGTTA
XM_005272172.1:c.5949+58_5949+63delinsGAGTTA XP_005272229.1:n.5949+58_5949+63delinsGAGTTA
XM_005272173.1:c.5949+58_5949+63delinsGAGTTA XP_005272230.1:n.5949+58_5949+63delinsGAGTTA
XM_011518404.1:c.5949+58_5949+63delinsGAGTTA XP_011516706.1:n.5949+58_5949+63delinsGAGTTA
XM_011518405.1:c.5949+58_5949+63delinsGAGTTA XP_011516707.1:n.5949+58_5949+63delinsGAGTTA
XM_011518406.1:c.5949+58_5949+63delinsGAGTTA XP_011516708.1:n.5949+58_5949+63delinsGAGTTA
XM_011518407.1:c.5949+58_5949+63delinsGAGTTA XP_011516709.1:n.5949+58_5949+63delinsGAGTTA
XM_011518408.1:c.5949+58_5949+63delinsGAGTTA XP_011516710.1:n.5949+58_5949+63delinsGAGTTA
XR_929739.1:n.5865+58_5865+63delinsGAGTTA
NM_001351527.1:c.5949+58_5949+63delinsGAGTTA NP_001338456.1:n.5949+58_5949+63delinsGAGTTA
NM_001351528.1:c.5949+58_5949+63delinsGAGTTA NP_001338457.1:n.5949+58_5949+63delinsGAGTTA
NM_015046.6:c.5949+58_5949+63delinsGAGTTA NP_055861.3:n.5949+58_5949+63delinsGAGTTA
XM_005272172.3:c.5949+58_5949+63delinsGAGTTA XP_005272229.1:n.5949+58_5949+63delinsGAGTTA
XM_005272173.3:c.5949+58_5949+63delinsGAGTTA XP_005272230.1:n.5949+58_5949+63delinsGAGTTA
XM_011518404.3:c.5949+58_5949+63delinsGAGTTA XP_011516706.1:n.5949+58_5949+63delinsGAGTTA
XM_011518405.3:c.5949+58_5949+63delinsGAGTTA XP_011516707.1:n.5949+58_5949+63delinsGAGTTA
XM_011518406.2:c.5949+58_5949+63delinsGAGTTA XP_011516708.1:n.5949+58_5949+63delinsGAGTTA
XM_011518408.3:c.5949+58_5949+63delinsGAGTTA XP_011516710.1:n.5949+58_5949+63delinsGAGTTA
XM_017014496.1:c.402+58_402+63delinsGAGTTA XP_016869985.1:n.402+58_402+63delinsGAGTTA
XR_001746251.1:n.5504+58_5504+63delinsGAGTTA
XR_929739.2:n.5865+58_5865+63delinsGAGTTA
NM_015046.7:c.5949+58_5949+63delinsGAGTTA MANE Select NP_055861.3:n.5949+58_5949+63delinsGAGTTA
NM_001351528.2:c.5949+58_5949+63delinsGAGTTA NP_001338457.1:n.5949+58_5949+63delinsGAGTTA
NM_001351527.2:c.5949+58_5949+63delinsGAGTTA NP_001338456.1:n.5949+58_5949+63delinsGAGTTA