Canonical Allele Identifier: CA2692254066

Gene: SETX

Linked Data

• gnomAD v4: 9-132296931-TTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132296933_132296935del , CM000671.2:g.132296933_132296935del	GRCh38
NC_000009.11:g.135172320_135172322del , CM000671.1:g.135172320_135172322del	GRCh37
NC_000009.10:g.134162141_134162143del	NCBI36
NG_007946.1:g.63052_63054del , LRG_268:g.63052_63054del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5902_5904del MANE Select	ENSP00000224140.5:p.Gly1968del
ENST00000224140.5:c.5902_5904del	ENSP00000224140.5:p.Gly1968del
ENST00000436441.5:c.628_630del	ENSP00000409143.1:p.Gly210del
NM_015046.5:c.5902_5904del , LRG_268t1:c.5902_5904del	NP_055861.3:p.Gly1968del
XM_005272171.1:c.5902_5904del	XP_005272228.1:p.Gly1968del
XM_005272172.1:c.5902_5904del	XP_005272229.1:p.Gly1968del
XM_005272173.1:c.5902_5904del	XP_005272230.1:p.Gly1968del
XM_011518404.1:c.5902_5904del	XP_011516706.1:p.Gly1968del
XM_011518405.1:c.5902_5904del	XP_011516707.1:p.Gly1968del
XM_011518406.1:c.5902_5904del	XP_011516708.1:p.Gly1968del
XM_011518407.1:c.5902_5904del	XP_011516709.1:p.Gly1968del
XM_011518408.1:c.5902_5904del	XP_011516710.1:p.Gly1968del
XR_929739.1:n.5818_5820del
NM_001351527.1:c.5902_5904del	NP_001338456.1:p.Gly1968del
NM_001351528.1:c.5902_5904del	NP_001338457.1:p.Gly1968del
NM_015046.6:c.5902_5904del	NP_055861.3:p.Gly1968del
XM_005272172.3:c.5902_5904del	XP_005272229.1:p.Gly1968del
XM_005272173.3:c.5902_5904del	XP_005272230.1:p.Gly1968del
XM_011518404.3:c.5902_5904del	XP_011516706.1:p.Gly1968del
XM_011518405.3:c.5902_5904del	XP_011516707.1:p.Gly1968del
XM_011518406.2:c.5902_5904del	XP_011516708.1:p.Gly1968del
XM_011518408.3:c.5902_5904del	XP_011516710.1:p.Gly1968del
XM_017014496.1:c.355_357del	XP_016869985.1:p.Gly119del
XR_001746251.1:n.5457_5459del
XR_929739.2:n.5818_5820del
NM_015046.7:c.5902_5904del MANE Select	NP_055861.3:p.Gly1968del
NM_001351528.2:c.5902_5904del	NP_001338457.1:p.Gly1968del
NM_001351527.2:c.5902_5904del	NP_001338456.1:p.Gly1968del