Canonical Allele Identifier: CA1854035043

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035969_69035983delinsAGCCGCGGGCCGCAC , CM000671.2:g.69035969_69035983delinsAGCCGCGGGCCGCAC	GRCh38
NC_000009.11:g.71650885_71650899delinsAGCCGCGGGCCGCAC , CM000671.1:g.71650885_71650899delinsAGCCGCGGGCCGCAC	GRCh37
NC_000009.10:g.70840705_70840719delinsAGCCGCGGGCCGCAC	NCBI36
NG_008845.2:g.5407_5421delinsAGCCGCGGGCCGCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.165+22_165+36delinsAGCCGCGGGCCGCAC MANE Select	ENSP00000419243.2:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000642330.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000493770.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000642889.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000493780.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000643352.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000496488.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000643765.1:c.163+22_163+36delinsAGCCGCGGGCCGCAC
ENST00000644653.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000495217.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000644977.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000495651.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000645088.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000495447.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000646862.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000494599.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000377270.7:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000366482.3:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000396364.7:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000379650.3:n.165+22_165+36delinsAGCCGCGGGCCGCAC
ENST00000396366.6:c.165+22_165+36delinsAGCCGCGGGCCGCAC	ENSP00000379652.2:n.165+22_165+36delinsAGCCGCGGGCCGCAC
NM_000144.4:c.165+22_165+36delinsAGCCGCGGGCCGCAC	NP_000135.2:n.165+22_165+36delinsAGCCGCGGGCCGCAC
NM_001161706.1:c.165+22_165+36delinsAGCCGCGGGCCGCAC	NP_001155178.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
NM_181425.2:c.165+22_165+36delinsAGCCGCGGGCCGCAC	NP_852090.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC
NM_000144.5:c.165+22_165+36delinsAGCCGCGGGCCGCAC MANE Select	NP_000135.2:n.165+22_165+36delinsAGCCGCGGGCCGCAC
NM_181425.3:c.165+22_165+36delinsAGCCGCGGGCCGCAC	NP_852090.1:n.165+22_165+36delinsAGCCGCGGGCCGCAC