Canonical Allele Identifier: CA1882092060

Gene: SETX

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296912_132296915delinsCCAA , CM000671.2:g.132296912_132296915delinsCCAA	GRCh38
NC_000009.11:g.135172299_135172302delinsCCAA , CM000671.1:g.135172299_135172302delinsCCAA	GRCh37
NC_000009.10:g.134162120_134162123delinsCCAA	NCBI36
NG_007946.1:g.63071_63074delinsTTGG , LRG_268:g.63071_63074delinsTTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5921_5924delinsTTGG MANE Select	ENSP00000224140.5:p.Val1974=
ENST00000224140.5:c.5921_5924delinsTTGG	ENSP00000224140.5:p.Val1974=
ENST00000436441.5:c.647_650delinsTTGG	ENSP00000409143.1:p.Val216=
NM_015046.5:c.5921_5924delinsTTGG , LRG_268t1:c.5921_5924delinsTTGG	NP_055861.3:p.Val1974=
XM_005272171.1:c.5921_5924delinsTTGG	XP_005272228.1:p.Val1974=
XM_005272172.1:c.5921_5924delinsTTGG	XP_005272229.1:p.Val1974=
XM_005272173.1:c.5921_5924delinsTTGG	XP_005272230.1:p.Val1974=
XM_011518404.1:c.5921_5924delinsTTGG	XP_011516706.1:p.Val1974=
XM_011518405.1:c.5921_5924delinsTTGG	XP_011516707.1:p.Val1974=
XM_011518406.1:c.5921_5924delinsTTGG	XP_011516708.1:p.Val1974=
XM_011518407.1:c.5921_5924delinsTTGG	XP_011516709.1:p.Val1974=
XM_011518408.1:c.5921_5924delinsTTGG	XP_011516710.1:p.Val1974=
XR_929739.1:n.5837_5840delinsTTGG
NM_001351527.1:c.5921_5924delinsTTGG	NP_001338456.1:p.Val1974=
NM_001351528.1:c.5921_5924delinsTTGG	NP_001338457.1:p.Val1974=
NM_015046.6:c.5921_5924delinsTTGG	NP_055861.3:p.Val1974=
XM_005272172.3:c.5921_5924delinsTTGG	XP_005272229.1:p.Val1974=
XM_005272173.3:c.5921_5924delinsTTGG	XP_005272230.1:p.Val1974=
XM_011518404.3:c.5921_5924delinsTTGG	XP_011516706.1:p.Val1974=
XM_011518405.3:c.5921_5924delinsTTGG	XP_011516707.1:p.Val1974=
XM_011518406.2:c.5921_5924delinsTTGG	XP_011516708.1:p.Val1974=
XM_011518408.3:c.5921_5924delinsTTGG	XP_011516710.1:p.Val1974=
XM_017014496.1:c.374_377delinsTTGG	XP_016869985.1:p.Val125=
XR_001746251.1:n.5476_5479delinsTTGG
XR_929739.2:n.5837_5840delinsTTGG
NM_015046.7:c.5921_5924delinsTTGG MANE Select	NP_055861.3:p.Val1974=
NM_001351528.2:c.5921_5924delinsTTGG	NP_001338457.1:p.Val1974=
NM_001351527.2:c.5921_5924delinsTTGG	NP_001338456.1:p.Val1974=