Canonical Allele Identifier: CA252197
Gene: SETX HGNC NCBI

Linked Data

ClinVar Variation Id: 2297
ClinVar RCV Id: RCV000002387 RCV000624514
dbSNP Id: rs587776537
gnomAD v4: 9-132346303-CAAG-C
MyVariant Identifiers: chr9:g.135221691_135221693del (hg19) chr9:g.132346304_132346306del (hg38)
PubMed: PMID:14770181 PMID:15106121 PMID:15732101 PMID:19593598 PMID:19696032
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.132346308_132346310del , CM000671.2:g.132346308_132346310del GRCh38
NC_000009.11:g.135221695_135221697del , CM000671.1:g.135221695_135221697del GRCh37
NC_000009.10:g.134211516_134211518del NCBI36
NG_007946.1:g.13680_13682del , LRG_268:g.13680_13682del

Transcript Alleles

HGVS Amino-acid change
ENST00000224140.6:c.343_345del MANE Select ENSP00000224140.5:p.Leu115del
ENST00000224140.5:c.343_345del ENSP00000224140.5:p.Leu115del
NM_015046.5:c.343_345del , LRG_268t1:c.343_345del NP_055861.3:p.Leu115del
XM_005272171.1:c.343_345del XP_005272228.1:p.Leu115del
XM_005272172.1:c.343_345del XP_005272229.1:p.Leu115del
XM_005272173.1:c.343_345del XP_005272230.1:p.Leu115del
XM_011518404.1:c.343_345del XP_011516706.1:p.Leu115del
XM_011518405.1:c.343_345del XP_011516707.1:p.Leu115del
XM_011518406.1:c.343_345del XP_011516708.1:p.Leu115del
XM_011518407.1:c.343_345del XP_011516709.1:p.Leu115del
XM_011518408.1:c.343_345del XP_011516710.1:p.Leu115del
XR_929739.1:n.527_529del
NM_001351527.1:c.343_345del NP_001338456.1:p.Leu115del
NM_001351528.1:c.343_345del NP_001338457.1:p.Leu115del
NM_015046.6:c.343_345del NP_055861.3:p.Leu115del
XM_005272172.3:c.343_345del XP_005272229.1:p.Leu115del
XM_005272173.3:c.343_345del XP_005272230.1:p.Leu115del
XM_011518404.3:c.343_345del XP_011516706.1:p.Leu115del
XM_011518405.3:c.343_345del XP_011516707.1:p.Leu115del
XM_011518406.2:c.343_345del XP_011516708.1:p.Leu115del
XM_011518408.3:c.343_345del XP_011516710.1:p.Leu115del
XR_001746251.1:n.527_529del
XR_929739.2:n.527_529del
NM_015046.7:c.343_345del MANE Select NP_055861.3:p.Leu115del
NM_001351528.2:c.343_345del NP_001338457.1:p.Leu115del
NM_001351527.2:c.343_345del NP_001338456.1:p.Leu115del
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