Canonical Allele Identifier: CA1882091927

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296804_132296808delinsATACT , CM000671.2:g.132296804_132296808delinsATACT	GRCh38
NC_000009.11:g.135172191_135172195delinsATACT , CM000671.1:g.135172191_135172195delinsATACT	GRCh37
NC_000009.10:g.134162012_134162016delinsATACT	NCBI36
NG_007946.1:g.63178_63182delinsAGTAT , LRG_268:g.63178_63182delinsAGTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5949+79_5949+83delinsAGTAT MANE Select	ENSP00000224140.5:n.5949+79_5949+83delinsAGTAT
ENST00000224140.5:c.5949+79_5949+83delinsAGTAT	ENSP00000224140.5:n.5949+79_5949+83delinsAGTAT
ENST00000436441.5:c.675+79_675+83delinsAGTAT	ENSP00000409143.1:n.675+79_675+83delinsAGTAT
NM_015046.5:c.5949+79_5949+83delinsAGTAT , LRG_268t1:c.5949+79_5949+83delinsAGTAT	NP_055861.3:n.5949+79_5949+83delinsAGTAT
XM_005272171.1:c.5949+79_5949+83delinsAGTAT	XP_005272228.1:n.5949+79_5949+83delinsAGTAT
XM_005272172.1:c.5949+79_5949+83delinsAGTAT	XP_005272229.1:n.5949+79_5949+83delinsAGTAT
XM_005272173.1:c.5949+79_5949+83delinsAGTAT	XP_005272230.1:n.5949+79_5949+83delinsAGTAT
XM_011518404.1:c.5949+79_5949+83delinsAGTAT	XP_011516706.1:n.5949+79_5949+83delinsAGTAT
XM_011518405.1:c.5949+79_5949+83delinsAGTAT	XP_011516707.1:n.5949+79_5949+83delinsAGTAT
XM_011518406.1:c.5949+79_5949+83delinsAGTAT	XP_011516708.1:n.5949+79_5949+83delinsAGTAT
XM_011518407.1:c.5949+79_5949+83delinsAGTAT	XP_011516709.1:n.5949+79_5949+83delinsAGTAT
XM_011518408.1:c.5949+79_5949+83delinsAGTAT	XP_011516710.1:n.5949+79_5949+83delinsAGTAT
XR_929739.1:n.5865+79_5865+83delinsAGTAT
NM_001351527.1:c.5949+79_5949+83delinsAGTAT	NP_001338456.1:n.5949+79_5949+83delinsAGTAT
NM_001351528.1:c.5949+79_5949+83delinsAGTAT	NP_001338457.1:n.5949+79_5949+83delinsAGTAT
NM_015046.6:c.5949+79_5949+83delinsAGTAT	NP_055861.3:n.5949+79_5949+83delinsAGTAT
XM_005272172.3:c.5949+79_5949+83delinsAGTAT	XP_005272229.1:n.5949+79_5949+83delinsAGTAT
XM_005272173.3:c.5949+79_5949+83delinsAGTAT	XP_005272230.1:n.5949+79_5949+83delinsAGTAT
XM_011518404.3:c.5949+79_5949+83delinsAGTAT	XP_011516706.1:n.5949+79_5949+83delinsAGTAT
XM_011518405.3:c.5949+79_5949+83delinsAGTAT	XP_011516707.1:n.5949+79_5949+83delinsAGTAT
XM_011518406.2:c.5949+79_5949+83delinsAGTAT	XP_011516708.1:n.5949+79_5949+83delinsAGTAT
XM_011518408.3:c.5949+79_5949+83delinsAGTAT	XP_011516710.1:n.5949+79_5949+83delinsAGTAT
XM_017014496.1:c.402+79_402+83delinsAGTAT	XP_016869985.1:n.402+79_402+83delinsAGTAT
XR_001746251.1:n.5504+79_5504+83delinsAGTAT
XR_929739.2:n.5865+79_5865+83delinsAGTAT
NM_015046.7:c.5949+79_5949+83delinsAGTAT MANE Select	NP_055861.3:n.5949+79_5949+83delinsAGTAT
NM_001351528.2:c.5949+79_5949+83delinsAGTAT	NP_001338457.1:n.5949+79_5949+83delinsAGTAT
NM_001351527.2:c.5949+79_5949+83delinsAGTAT	NP_001338456.1:n.5949+79_5949+83delinsAGTAT