Canonical Allele Identifier: CA2544234805

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69064976_69064983del , CM000671.2:g.69064976_69064983del	GRCh38
NC_000009.11:g.71679892_71679899del , CM000671.1:g.71679892_71679899del	GRCh37
NC_000009.10:g.70869712_70869719del	NCBI36
NG_008845.2:g.34414_34421del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.198_205del	ENSP00000366482.4:p.Thr67AspfsTer20
ENST00000484259.3:c.423_430del MANE Select	ENSP00000419243.2:p.Thr142AspfsTer20
ENST00000642330.1:c.384+11716_384+11723del	ENSP00000493770.1:n.384+11716_384+11723del
ENST00000642889.1:c.165+29029_165+29036del	ENSP00000493780.1:n.165+29029_165+29036del
ENST00000643352.1:c.423_430del	ENSP00000496488.1:p.Thr142AspfsTer?
ENST00000643765.1:c.421_428del
ENST00000644653.1:c.*26_*33del	ENSP00000495217.1:n.*26_*33del
ENST00000644977.1:c.*148_*155del	ENSP00000495651.1:n.*148_*155del
ENST00000645088.1:c.*26_*33del	ENSP00000495447.1:n.*26_*33del
ENST00000646862.1:c.384+11716_384+11723del	ENSP00000494599.1:n.384+11716_384+11723del
ENST00000377270.7:c.423_430del	ENSP00000366482.3:p.Thr142AspfsTer20
ENST00000396364.7:c.423_430del	ENSP00000379650.3:p.Thr142AspfsTer?
ENST00000396366.6:c.423_430del	ENSP00000379652.2:p.Thr142AspfsTer?
ENST00000484259.1:c.115_122del
ENST00000498653.5:c.198_205del	ENSP00000418015.1:p.Thr67AspfsTer20
NM_000144.4:c.423_430del	NP_000135.2:p.Thr142AspfsTer20
NM_001161706.1:c.423_430del	NP_001155178.1:p.Thr142AspfsTer?
NM_181425.2:c.423_430del	NP_852090.1:p.Thr142AspfsTer?
NM_000144.5:c.423_430del MANE Select	NP_000135.2:p.Thr142AspfsTer20
NM_181425.3:c.423_430del	NP_852090.1:p.Thr142AspfsTer?