Canonical Allele Identifier: CA1125110218

Gene: FXN

Linked Data

• dbSNP Id: rs1831537546
• gnomAD v3: 9-69035843-G-GCCCAGA
• gnomAD v4: 9-69035843-G-GCCCAGA

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035847_69035852dup , CM000671.2:g.69035847_69035852dup	GRCh38
NC_000009.11:g.71650763_71650768dup , CM000671.1:g.71650763_71650768dup	GRCh37
NC_000009.10:g.70840583_70840588dup	NCBI36
NG_008845.2:g.5285_5290dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.65_70dup MANE Select	ENSP00000419243.2:p.Thr23_Leu24insGlnThr
ENST00000642330.1:c.65_70dup	ENSP00000493770.1:p.Thr23_Leu24insGlnThr
ENST00000642889.1:c.65_70dup	ENSP00000493780.1:p.Thr23_Leu24insGlnThr
ENST00000643352.1:c.65_70dup	ENSP00000496488.1:p.Thr23_Leu24insGlnThr
ENST00000643765.1:c.63_68dup
ENST00000644653.1:c.65_70dup	ENSP00000495217.1:p.Thr23_Leu24insGlnThr
ENST00000644977.1:c.65_70dup	ENSP00000495651.1:p.Thr23_Leu24insGlnThr
ENST00000645088.1:c.65_70dup	ENSP00000495447.1:p.Thr23_Leu24insGlnThr
ENST00000646862.1:c.65_70dup	ENSP00000494599.1:p.Thr23_Leu24insGlnThr
ENST00000377270.7:c.65_70dup	ENSP00000366482.3:p.Thr23_Leu24insGlnThr
ENST00000396364.7:c.65_70dup	ENSP00000379650.3:p.Thr23_Leu24insGlnThr
ENST00000396366.6:c.65_70dup	ENSP00000379652.2:p.Thr23_Leu24insGlnThr
NM_000144.4:c.65_70dup	NP_000135.2:p.Thr23_Leu24insGlnThr
NM_001161706.1:c.65_70dup	NP_001155178.1:p.Thr23_Leu24insGlnThr
NM_181425.2:c.65_70dup	NP_852090.1:p.Thr23_Leu24insGlnThr
NM_000144.5:c.65_70dup MANE Select	NP_000135.2:p.Thr23_Leu24insGlnThr
NM_181425.3:c.65_70dup	NP_852090.1:p.Thr23_Leu24insGlnThr