Canonical Allele Identifier: CA2544798276

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064985_69064986insGTCGCCGT , CM000671.2:g.69064985_69064986insGTCGCCGT	GRCh38
NC_000009.11:g.71679901_71679902insGTCGCCGT , CM000671.1:g.71679901_71679902insGTCGCCGT	GRCh37
NC_000009.10:g.70869721_70869722insGTCGCCGT	NCBI36
NG_008845.2:g.34423_34424insGTCGCCGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.207_208insGTCGCCGT	ENSP00000366482.4:p.Ile70ValfsTer?
ENST00000484259.3:c.432_433insGTCGCCGT MANE Select	ENSP00000419243.2:p.Ile145ValfsTer?
ENST00000642330.1:c.384+11725_384+11726insGTCGCCGT	ENSP00000493770.1:n.384+11725_384+11726insGTCGCCGT
ENST00000642889.1:c.165+29038_165+29039insGTCGCCGT	ENSP00000493780.1:n.165+29038_165+29039insGTCGCCGT
ENST00000643352.1:c.432_433insGTCGCCGT	ENSP00000496488.1:p.Ile145ValfsTer21
ENST00000643765.1:c.430_431insGTCGCCGT
ENST00000644653.1:c.*35_*36insGTCGCCGT	ENSP00000495217.1:n.*35_*36insGTCGCCGT
ENST00000644977.1:c.*157_*158insGTCGCCGT	ENSP00000495651.1:n.*157_*158insGTCGCCGT
ENST00000645088.1:c.*35_*36insGTCGCCGT	ENSP00000495447.1:n.*35_*36insGTCGCCGT
ENST00000646862.1:c.384+11725_384+11726insGTCGCCGT	ENSP00000494599.1:n.384+11725_384+11726insGTCGCCGT
ENST00000377270.7:c.432_433insGTCGCCGT	ENSP00000366482.3:p.Ile145ValfsTer?
ENST00000396364.7:c.432_433insGTCGCCGT	ENSP00000379650.3:p.Ile145ValfsTer21
ENST00000396366.6:c.432_433insGTCGCCGT	ENSP00000379652.2:p.Ile145ValfsTer22
ENST00000484259.1:c.124_125insGTCGCCGT
ENST00000498653.5:c.207_208insGTCGCCGT	ENSP00000418015.1:p.Ile70ValfsTer?
NM_000144.4:c.432_433insGTCGCCGT	NP_000135.2:p.Ile145ValfsTer?
NM_001161706.1:c.432_433insGTCGCCGT	NP_001155178.1:p.Ile145ValfsTer21
NM_181425.2:c.432_433insGTCGCCGT	NP_852090.1:p.Ile145ValfsTer22
NM_000144.5:c.432_433insGTCGCCGT MANE Select	NP_000135.2:p.Ile145ValfsTer?
NM_181425.3:c.432_433insGTCGCCGT	NP_852090.1:p.Ile145ValfsTer22