Canonical Allele Identifier: CA2692254160

Gene: SETX

Linked Data

• gnomAD v4: 9-132297195-CCAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132297196_132297199del , CM000671.2:g.132297196_132297199del	GRCh38
NC_000009.11:g.135172583_135172586del , CM000671.1:g.135172583_135172586del	GRCh37
NC_000009.10:g.134162404_134162407del	NCBI36
NG_007946.1:g.62787_62790del , LRG_268:g.62787_62790del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.5782-145_5782-142del MANE Select	ENSP00000224140.5:n.5782-145_5782-142del
ENST00000224140.5:c.5782-145_5782-142del	ENSP00000224140.5:n.5782-145_5782-142del
ENST00000436441.5:c.508-145_508-142del	ENSP00000409143.1:n.508-145_508-142del
NM_015046.5:c.5782-145_5782-142del , LRG_268t1:c.5782-145_5782-142del	NP_055861.3:n.5782-145_5782-142del
XM_005272171.1:c.5782-145_5782-142del	XP_005272228.1:n.5782-145_5782-142del
XM_005272172.1:c.5782-145_5782-142del	XP_005272229.1:n.5782-145_5782-142del
XM_005272173.1:c.5782-145_5782-142del	XP_005272230.1:n.5782-145_5782-142del
XM_011518404.1:c.5782-145_5782-142del	XP_011516706.1:n.5782-145_5782-142del
XM_011518405.1:c.5782-145_5782-142del	XP_011516707.1:n.5782-145_5782-142del
XM_011518406.1:c.5782-145_5782-142del	XP_011516708.1:n.5782-145_5782-142del
XM_011518407.1:c.5782-145_5782-142del	XP_011516709.1:n.5782-145_5782-142del
XM_011518408.1:c.5782-145_5782-142del	XP_011516710.1:n.5782-145_5782-142del
XR_929739.1:n.5698-145_5698-142del
NM_001351527.1:c.5782-145_5782-142del	NP_001338456.1:n.5782-145_5782-142del
NM_001351528.1:c.5782-145_5782-142del	NP_001338457.1:n.5782-145_5782-142del
NM_015046.6:c.5782-145_5782-142del	NP_055861.3:n.5782-145_5782-142del
XM_005272172.3:c.5782-145_5782-142del	XP_005272229.1:n.5782-145_5782-142del
XM_005272173.3:c.5782-145_5782-142del	XP_005272230.1:n.5782-145_5782-142del
XM_011518404.3:c.5782-145_5782-142del	XP_011516706.1:n.5782-145_5782-142del
XM_011518405.3:c.5782-145_5782-142del	XP_011516707.1:n.5782-145_5782-142del
XM_011518406.2:c.5782-145_5782-142del	XP_011516708.1:n.5782-145_5782-142del
XM_011518408.3:c.5782-145_5782-142del	XP_011516710.1:n.5782-145_5782-142del
XM_017014496.1:c.235-145_235-142del	XP_016869985.1:n.235-145_235-142del
XR_001746251.1:n.5337-145_5337-142del
XR_929739.2:n.5698-145_5698-142del
NM_015046.7:c.5782-145_5782-142del MANE Select	NP_055861.3:n.5782-145_5782-142del
NM_001351528.2:c.5782-145_5782-142del	NP_001338457.1:n.5782-145_5782-142del
NM_001351527.2:c.5782-145_5782-142del	NP_001338456.1:n.5782-145_5782-142del