Canonical Allele Identifier: CA193385392
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs151206121
MyVariant Identifiers: chr9:g.71668173_71668176del (hg19) chr9:g.69053257_69053260del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69053257_69053260del , CM000671.2:g.69053257_69053260del GRCh38
NC_000009.11:g.71668173_71668176del , CM000671.1:g.71668173_71668176del GRCh37
NC_000009.10:g.70857993_70857996del NCBI36
NG_008845.2:g.22695_22698del

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.156_159del ENSP00000366482.4:p.Phe52LeufsTer5
ENST00000484259.3:c.381_384del MANE Select ENSP00000419243.2:p.Phe127LeufsTer5
ENST00000642330.1:c.381_384del ENSP00000493770.1:p.Phe127LeufsTer12
ENST00000642889.1:c.165+17310_165+17313del ENSP00000493780.1:n.165+17310_165+17313de...
ENST00000643352.1:c.381_384del ENSP00000496488.1:p.Phe127LeufsTer5
ENST00000643765.1:c.379_382del
ENST00000644653.1:c.263+6775_263+6778del ENSP00000495217.1:n.263+6775_263+6778del
ENST00000644977.1:c.*106_*109del ENSP00000495651.1:n.*106_*109del
ENST00000645088.1:c.263+6775_263+6778del ENSP00000495447.1:n.263+6775_263+6778del
ENST00000646862.1:c.381_384del ENSP00000494599.1:p.Phe127LeufsTer12
ENST00000377270.7:c.381_384del ENSP00000366482.3:p.Phe127LeufsTer5
ENST00000396364.7:c.381_384del ENSP00000379650.3:p.Phe127LeufsTer5
ENST00000396366.6:c.381_384del ENSP00000379652.2:p.Phe127LeufsTer5
ENST00000484259.1:c.76+6775_76+6778del
ENST00000498653.5:c.156_159del ENSP00000418015.1:p.Phe52LeufsTer5
NM_000144.4:c.381_384del NP_000135.2:p.Phe127LeufsTer5
NM_001161706.1:c.381_384del NP_001155178.1:p.Phe127LeufsTer5
NM_181425.2:c.381_384del NP_852090.1:p.Phe127LeufsTer5
NM_000144.5:c.381_384del MANE Select NP_000135.2:p.Phe127LeufsTer5
NM_181425.3:c.381_384del NP_852090.1:p.Phe127LeufsTer5
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