Canonical Allele Identifier: CA2692254122

Gene: SETX

Linked Data

• gnomAD v4: 9-132297143-CTTTCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132297144_132297148del , CM000671.2:g.132297144_132297148del	GRCh38
NC_000009.11:g.135172531_135172535del , CM000671.1:g.135172531_135172535del	GRCh37
NC_000009.10:g.134162352_134162356del	NCBI36
NG_007946.1:g.62838_62842del , LRG_268:g.62838_62842del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5782-94_5782-90del MANE Select	ENSP00000224140.5:n.5782-94_5782-90del
ENST00000224140.5:c.5782-94_5782-90del	ENSP00000224140.5:n.5782-94_5782-90del
ENST00000436441.5:c.508-94_508-90del	ENSP00000409143.1:n.508-94_508-90del
NM_015046.5:c.5782-94_5782-90del , LRG_268t1:c.5782-94_5782-90del	NP_055861.3:n.5782-94_5782-90del
XM_005272171.1:c.5782-94_5782-90del	XP_005272228.1:n.5782-94_5782-90del
XM_005272172.1:c.5782-94_5782-90del	XP_005272229.1:n.5782-94_5782-90del
XM_005272173.1:c.5782-94_5782-90del	XP_005272230.1:n.5782-94_5782-90del
XM_011518404.1:c.5782-94_5782-90del	XP_011516706.1:n.5782-94_5782-90del
XM_011518405.1:c.5782-94_5782-90del	XP_011516707.1:n.5782-94_5782-90del
XM_011518406.1:c.5782-94_5782-90del	XP_011516708.1:n.5782-94_5782-90del
XM_011518407.1:c.5782-94_5782-90del	XP_011516709.1:n.5782-94_5782-90del
XM_011518408.1:c.5782-94_5782-90del	XP_011516710.1:n.5782-94_5782-90del
XR_929739.1:n.5698-94_5698-90del
NM_001351527.1:c.5782-94_5782-90del	NP_001338456.1:n.5782-94_5782-90del
NM_001351528.1:c.5782-94_5782-90del	NP_001338457.1:n.5782-94_5782-90del
NM_015046.6:c.5782-94_5782-90del	NP_055861.3:n.5782-94_5782-90del
XM_005272172.3:c.5782-94_5782-90del	XP_005272229.1:n.5782-94_5782-90del
XM_005272173.3:c.5782-94_5782-90del	XP_005272230.1:n.5782-94_5782-90del
XM_011518404.3:c.5782-94_5782-90del	XP_011516706.1:n.5782-94_5782-90del
XM_011518405.3:c.5782-94_5782-90del	XP_011516707.1:n.5782-94_5782-90del
XM_011518406.2:c.5782-94_5782-90del	XP_011516708.1:n.5782-94_5782-90del
XM_011518408.3:c.5782-94_5782-90del	XP_011516710.1:n.5782-94_5782-90del
XM_017014496.1:c.235-94_235-90del	XP_016869985.1:n.235-94_235-90del
XR_001746251.1:n.5337-94_5337-90del
XR_929739.2:n.5698-94_5698-90del
NM_015046.7:c.5782-94_5782-90del MANE Select	NP_055861.3:n.5782-94_5782-90del
NM_001351528.2:c.5782-94_5782-90del	NP_001338457.1:n.5782-94_5782-90del
NM_001351527.2:c.5782-94_5782-90del	NP_001338456.1:n.5782-94_5782-90del