Canonical Allele Identifier: CA193385298
Gene: FXN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69053173_69053174insT , CM000671.2:g.69053173_69053174insT GRCh38
NC_000009.11:g.71668089_71668090insT , CM000671.1:g.71668089_71668090insT GRCh37
NC_000009.10:g.70857909_70857910insT NCBI36
NG_008845.2:g.22611_22612insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.72_73insT ENSP00000366482.4:p.Glu25Ter
ENST00000484259.3:c.297_298insT MANE Select ENSP00000419243.2:p.Glu100Ter
ENST00000642330.1:c.297_298insT ENSP00000493770.1:p.Glu100Ter
ENST00000642889.1:c.165+17226_165+17227insT ENSP00000493780.1:n.165+17226_165+17227insT
ENST00000643352.1:c.297_298insT ENSP00000496488.1:p.Glu100Ter
ENST00000643765.1:c.295_296insT
ENST00000644653.1:c.263+6691_263+6692insT ENSP00000495217.1:n.263+6691_263+6692insT
ENST00000644977.1:c.*22_*23insT ENSP00000495651.1:n.*22_*23insT
ENST00000645088.1:c.263+6691_263+6692insT ENSP00000495447.1:n.263+6691_263+6692insT
ENST00000646862.1:c.297_298insT ENSP00000494599.1:p.Glu100Ter
ENST00000377270.7:c.297_298insT ENSP00000366482.3:p.Glu100Ter
ENST00000396364.7:c.297_298insT ENSP00000379650.3:p.Glu100Ter
ENST00000396366.6:c.297_298insT ENSP00000379652.2:p.Glu100Ter
ENST00000484259.1:c.76+6691_76+6692insT
ENST00000498653.5:c.72_73insT ENSP00000418015.1:p.Glu25Ter
NM_000144.4:c.297_298insT NP_000135.2:p.Glu100Ter
NM_001161706.1:c.297_298insT NP_001155178.1:p.Glu100Ter
NM_181425.2:c.297_298insT NP_852090.1:p.Glu100Ter
NM_000144.5:c.297_298insT MANE Select NP_000135.2:p.Glu100Ter
NM_181425.3:c.297_298insT NP_852090.1:p.Glu100Ter
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