Canonical Allele Identifier: CA860636513

Gene: SETX

Linked Data

• dbSNP Id: rs1473212120
• gnomAD v4: 9-132297060-T-TA
• MyVariant Identifiers: chr9:g.135172447_135172448insA (hg19) ; chr9:g.132297060_132297061insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.132297066dup , CM000671.2:g.132297066dup	GRCh38
NC_000009.11:g.135172453dup , CM000671.1:g.135172453dup	GRCh37
NC_000009.10:g.134162274dup	NCBI36
NG_007946.1:g.62925dup , LRG_268:g.62925dup

Transcript Alleles

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