Canonical Allele Identifier: CA588647901

Gene: FXN

Linked Data

• dbSNP Id: rs1487820672
• gnomAD v2: 9-71650763-A-AGACCCT
• gnomAD v4: 9-69035847-A-AGACCCT
• MyVariant Identifiers: chr9:g.71650763_71650764insGACCCT (hg19) ; chr9:g.69035847_69035848insGACCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035848_69035853dup , CM000671.2:g.69035848_69035853dup	GRCh38
NC_000009.11:g.71650764_71650769dup , CM000671.1:g.71650764_71650769dup	GRCh37
NC_000009.10:g.70840584_70840589dup	NCBI36
NG_008845.2:g.5286_5291dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.66_71dup MANE Select	ENSP00000419243.2:p.Leu24_Thr25insThrLeu
ENST00000642330.1:c.66_71dup	ENSP00000493770.1:p.Leu24_Thr25insThrLeu
ENST00000642889.1:c.66_71dup	ENSP00000493780.1:p.Leu24_Thr25insThrLeu
ENST00000643352.1:c.66_71dup	ENSP00000496488.1:p.Leu24_Thr25insThrLeu
ENST00000643765.1:c.64_69dup
ENST00000644653.1:c.66_71dup	ENSP00000495217.1:p.Leu24_Thr25insThrLeu
ENST00000644977.1:c.66_71dup	ENSP00000495651.1:p.Leu24_Thr25insThrLeu
ENST00000645088.1:c.66_71dup	ENSP00000495447.1:p.Leu24_Thr25insThrLeu
ENST00000646862.1:c.66_71dup	ENSP00000494599.1:p.Leu24_Thr25insThrLeu
ENST00000377270.7:c.66_71dup	ENSP00000366482.3:p.Leu24_Thr25insThrLeu
ENST00000396364.7:c.66_71dup	ENSP00000379650.3:p.Leu24_Thr25insThrLeu
ENST00000396366.6:c.66_71dup	ENSP00000379652.2:p.Leu24_Thr25insThrLeu
NM_000144.4:c.66_71dup	NP_000135.2:p.Leu24_Thr25insThrLeu
NM_001161706.1:c.66_71dup	NP_001155178.1:p.Leu24_Thr25insThrLeu
NM_181425.2:c.66_71dup	NP_852090.1:p.Leu24_Thr25insThrLeu
NM_000144.5:c.66_71dup MANE Select	NP_000135.2:p.Leu24_Thr25insThrLeu
NM_181425.3:c.66_71dup	NP_852090.1:p.Leu24_Thr25insThrLeu