Canonical Allele Identifier: CA2690187846

Gene: FXN

Linked Data

• gnomAD v4: 9-69036073-C-CCCTGAGAAGGAGCGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69036073_69036074insCCTGAGAAGGAGCGGGG , CM000671.2:g.69036073_69036074insCCTGAGAAGGAGCGGGG	GRCh38
NC_000009.11:g.71650989_71650990insCCTGAGAAGGAGCGGGG , CM000671.1:g.71650989_71650990insCCTGAGAAGGAGCGGGG	GRCh37
NC_000009.10:g.70840809_70840810insCCTGAGAAGGAGCGGGG	NCBI36
NG_008845.2:g.5511_5512insCCTGAGAAGGAGCGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.-276_-275insCCTGAGAAGGAGCGGGG	ENSP00000366482.4:n.-276_-275insCCTGAGAAGGAGCGGGG
ENST00000484259.3:c.165+126_165+127insCCTGAGAAGGAGCGGGG MANE Select	ENSP00000419243.2:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000642330.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000493770.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000642889.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000493780.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000643352.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000496488.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000643765.1:c.163+126_163+127insCCTGAGAAGGAGCGGGG
ENST00000644653.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000495217.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000644977.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000495651.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000645088.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000495447.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000646862.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000494599.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000377270.7:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000366482.3:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000396364.7:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000379650.3:n.165+126_165+127insCCTGAGAAGGAGCGGGG
ENST00000396366.6:c.165+126_165+127insCCTGAGAAGGAGCGGGG	ENSP00000379652.2:n.165+126_165+127insCCTGAGAAGGAGCGGGG
NM_000144.4:c.165+126_165+127insCCTGAGAAGGAGCGGGG	NP_000135.2:n.165+126_165+127insCCTGAGAAGGAGCGGGG
NM_001161706.1:c.165+126_165+127insCCTGAGAAGGAGCGGGG	NP_001155178.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
NM_181425.2:c.165+126_165+127insCCTGAGAAGGAGCGGGG	NP_852090.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG
NM_000144.5:c.165+126_165+127insCCTGAGAAGGAGCGGGG MANE Select	NP_000135.2:n.165+126_165+127insCCTGAGAAGGAGCGGGG
NM_181425.3:c.165+126_165+127insCCTGAGAAGGAGCGGGG	NP_852090.1:n.165+126_165+127insCCTGAGAAGGAGCGGGG