Canonical Allele Identifier: CA2692254698

Gene: SETX

Linked Data

• gnomAD v4: 9-132330507-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132330510dup , CM000671.2:g.132330510dup	GRCh38
NC_000009.11:g.135205897dup , CM000671.1:g.135205897dup	GRCh37
NC_000009.10:g.134195718dup	NCBI36
NG_007946.1:g.29478dup , LRG_268:g.29478dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000224140.6:c.1099-9dup MANE Select	ENSP00000224140.5:n.1099-9dup
ENST00000224140.5:c.1099-9dup	ENSP00000224140.5:n.1099-9dup
NM_015046.5:c.1099-9dup , LRG_268t1:c.1099-9dup	NP_055861.3:n.1099-9dup
XM_005272171.1:c.1099-9dup	XP_005272228.1:n.1099-9dup
XM_005272172.1:c.1099-9dup	XP_005272229.1:n.1099-9dup
XM_005272173.1:c.1099-9dup	XP_005272230.1:n.1099-9dup
XM_011518404.1:c.1099-9dup	XP_011516706.1:n.1099-9dup
XM_011518405.1:c.1099-9dup	XP_011516707.1:n.1099-9dup
XM_011518406.1:c.1099-9dup	XP_011516708.1:n.1099-9dup
XM_011518407.1:c.1099-9dup	XP_011516709.1:n.1099-9dup
XM_011518408.1:c.1099-9dup	XP_011516710.1:n.1099-9dup
XR_929739.1:n.1283-9dup
NM_001351527.1:c.1099-9dup	NP_001338456.1:n.1099-9dup
NM_001351528.1:c.1099-9dup	NP_001338457.1:n.1099-9dup
NM_015046.6:c.1099-9dup	NP_055861.3:n.1099-9dup
XM_005272172.3:c.1099-9dup	XP_005272229.1:n.1099-9dup
XM_005272173.3:c.1099-9dup	XP_005272230.1:n.1099-9dup
XM_011518404.3:c.1099-9dup	XP_011516706.1:n.1099-9dup
XM_011518405.3:c.1099-9dup	XP_011516707.1:n.1099-9dup
XM_011518406.2:c.1099-9dup	XP_011516708.1:n.1099-9dup
XM_011518408.3:c.1099-9dup	XP_011516710.1:n.1099-9dup
XR_001746251.1:n.1283-9dup
XR_929739.2:n.1283-9dup
NM_015046.7:c.1099-9dup MANE Select	NP_055861.3:n.1099-9dup
NM_001351528.2:c.1099-9dup	NP_001338457.1:n.1099-9dup
NM_001351527.2:c.1099-9dup	NP_001338456.1:n.1099-9dup