Canonical Allele Identifier: CA465233226

Gene: FXN

Linked Data

• dbSNP Id: rs574800040
• gnomAD v2: 9-71650885-A-AGCCGCGGGCCGCAC
• gnomAD v3: 9-69035969-A-AGCCGCGGGCCGCAC
• gnomAD v4: 9-69035969-A-AGCCGCGGGCCGCAC
• MyVariant Identifiers: chr9:g.71650899_71650900insGCCGCGGGCCGCAC (hg19) ; chr9:g.71650885_71650886insGCCGCGGGCCGCAC (hg19) ; chr9:g.69035983_69035984insGCCGCGGGCCGCAC (hg38) ; chr9:g.69035969_69035970insGCCGCGGGCCGCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035989_69036002dup , CM000671.2:g.69035989_69036002dup	GRCh38
NC_000009.11:g.71650905_71650918dup , CM000671.1:g.71650905_71650918dup	GRCh37
NC_000009.10:g.70840725_70840738dup	NCBI36
NG_008845.2:g.5427_5440dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.165+42_165+55dup MANE Select	ENSP00000419243.2:n.165+42_165+55dup
ENST00000642330.1:c.165+42_165+55dup	ENSP00000493770.1:n.165+42_165+55dup
ENST00000642889.1:c.165+42_165+55dup	ENSP00000493780.1:n.165+42_165+55dup
ENST00000643352.1:c.165+42_165+55dup	ENSP00000496488.1:n.165+42_165+55dup
ENST00000643765.1:c.163+42_163+55dup
ENST00000644653.1:c.165+42_165+55dup	ENSP00000495217.1:n.165+42_165+55dup
ENST00000644977.1:c.165+42_165+55dup	ENSP00000495651.1:n.165+42_165+55dup
ENST00000645088.1:c.165+42_165+55dup	ENSP00000495447.1:n.165+42_165+55dup
ENST00000646862.1:c.165+42_165+55dup	ENSP00000494599.1:n.165+42_165+55dup
ENST00000377270.7:c.165+42_165+55dup	ENSP00000366482.3:n.165+42_165+55dup
ENST00000396364.7:c.165+42_165+55dup	ENSP00000379650.3:n.165+42_165+55dup
ENST00000396366.6:c.165+42_165+55dup	ENSP00000379652.2:n.165+42_165+55dup
NM_000144.4:c.165+42_165+55dup	NP_000135.2:n.165+42_165+55dup
NM_001161706.1:c.165+42_165+55dup	NP_001155178.1:n.165+42_165+55dup
NM_181425.2:c.165+42_165+55dup	NP_852090.1:n.165+42_165+55dup
NM_000144.5:c.165+42_165+55dup MANE Select	NP_000135.2:n.165+42_165+55dup
NM_181425.3:c.165+42_165+55dup	NP_852090.1:n.165+42_165+55dup