Canonical Allele Identifier: CA2579347255
Gene: FXN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69036046del , CM000671.2:g.69036046del GRCh38
NC_000009.11:g.71650962del , CM000671.1:g.71650962del GRCh37
NC_000009.10:g.70840782del NCBI36
NG_008845.2:g.5484del

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.-303del ENSP00000366482.4:n.-303del
ENST00000484259.3:c.165+99del MANE Select ENSP00000419243.2:n.165+99del
ENST00000642330.1:c.165+99del ENSP00000493770.1:n.165+99del
ENST00000642889.1:c.165+99del ENSP00000493780.1:n.165+99del
ENST00000643352.1:c.165+99del ENSP00000496488.1:n.165+99del
ENST00000643765.1:c.163+99del
ENST00000644653.1:c.165+99del ENSP00000495217.1:n.165+99del
ENST00000644977.1:c.165+99del ENSP00000495651.1:n.165+99del
ENST00000645088.1:c.165+99del ENSP00000495447.1:n.165+99del
ENST00000646862.1:c.165+99del ENSP00000494599.1:n.165+99del
ENST00000377270.7:c.165+99del ENSP00000366482.3:n.165+99del
ENST00000396364.7:c.165+99del ENSP00000379650.3:n.165+99del
ENST00000396366.6:c.165+99del ENSP00000379652.2:n.165+99del
NM_000144.4:c.165+99del NP_000135.2:n.165+99del
NM_001161706.1:c.165+99del NP_001155178.1:n.165+99del
NM_181425.2:c.165+99del NP_852090.1:n.165+99del
NM_000144.5:c.165+99del MANE Select NP_000135.2:n.165+99del
NM_181425.3:c.165+99del NP_852090.1:n.165+99del