Canonical Allele Identifier: CA193379778
Gene: FXN HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69046421_69046424delinsTTG , CM000671.2:g.69046421_69046424delinsTTG GRCh38
NC_000009.11:g.71661337_71661340delinsTTG , CM000671.1:g.71661337_71661340delinsTTG GRCh37
NC_000009.10:g.70851157_70851160delinsTTG NCBI36
NG_008845.2:g.15859_15862delinsTTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.-24_-21delinsTTG ENSP00000366482.4:n.-24_-21delinsTTG
ENST00000484259.3:c.202_205delinsTTG MANE Select ENSP00000419243.2:p.Val68LeufsTer8
ENST00000642330.1:c.202_205delinsTTG ENSP00000493770.1:p.Val68LeufsTer8
ENST00000642889.1:c.165+10474_165+10477delinsTTG ENSP00000493780.1:n.165+10474_165+10477delinsTTG
ENST00000643352.1:c.202_205delinsTTG ENSP00000496488.1:p.Val68LeufsTer8
ENST00000643765.1:c.200_203delinsTTG
ENST00000644653.1:c.202_205delinsTTG ENSP00000495217.1:p.Val68LeufsTer8
ENST00000644977.1:c.166-6719_166-6716delinsTTG ENSP00000495651.1:n.166-6719_166-6716delinsTTG
ENST00000645088.1:c.202_205delinsTTG ENSP00000495447.1:p.Val68LeufsTer8
ENST00000646862.1:c.202_205delinsTTG ENSP00000494599.1:p.Val68LeufsTer8
ENST00000377270.7:c.202_205delinsTTG ENSP00000366482.3:p.Val68LeufsTer8
ENST00000396364.7:c.202_205delinsTTG ENSP00000379650.3:p.Val68LeufsTer8
ENST00000396366.6:c.202_205delinsTTG ENSP00000379652.2:p.Val68LeufsTer8
ENST00000484259.1:c.15_18delinsTTG
ENST00000498653.5:c.-24_-21delinsTTG ENSP00000418015.1:n.-24_-21delinsTTG
NM_000144.4:c.202_205delinsTTG NP_000135.2:p.Val68LeufsTer8
NM_001161706.1:c.202_205delinsTTG NP_001155178.1:p.Val68LeufsTer8
NM_181425.2:c.202_205delinsTTG NP_852090.1:p.Val68LeufsTer8
NM_000144.5:c.202_205delinsTTG MANE Select NP_000135.2:p.Val68LeufsTer8
NM_181425.3:c.202_205delinsTTG NP_852090.1:p.Val68LeufsTer8
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