Canonical Allele Identifier: CA588207371

Gene: FXN

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69053192_69053193del , CM000671.2:g.69053192_69053193del	GRCh38
NC_000009.11:g.71668108_71668109del , CM000671.1:g.71668108_71668109del	GRCh37
NC_000009.10:g.70857928_70857929del	NCBI36
NG_008845.2:g.22630_22631del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.91_92del	ENSP00000366482.4:p.Leu31SerfsTer5
ENST00000484259.3:c.316_317del MANE Select	ENSP00000419243.2:p.Leu106SerfsTer5
ENST00000642330.1:c.316_317del	ENSP00000493770.1:p.Leu106SerfsTer5
ENST00000642889.1:c.165+17245_165+17246del	ENSP00000493780.1:n.165+17245_165+17246del
ENST00000643352.1:c.316_317del	ENSP00000496488.1:p.Leu106SerfsTer5
ENST00000643765.1:c.314_315del
ENST00000644653.1:c.263+6710_263+6711del	ENSP00000495217.1:n.263+6710_263+6711del
ENST00000644977.1:c.*41_*42del	ENSP00000495651.1:n.*41_*42del
ENST00000645088.1:c.263+6710_263+6711del	ENSP00000495447.1:n.263+6710_263+6711del
ENST00000646862.1:c.316_317del	ENSP00000494599.1:p.Leu106SerfsTer5
ENST00000377270.7:c.316_317del	ENSP00000366482.3:p.Leu106SerfsTer5
ENST00000396364.7:c.316_317del	ENSP00000379650.3:p.Leu106SerfsTer5
ENST00000396366.6:c.316_317del	ENSP00000379652.2:p.Leu106SerfsTer5
ENST00000484259.1:c.76+6710_76+6711del
ENST00000498653.5:c.91_92del	ENSP00000418015.1:p.Leu31SerfsTer5
NM_000144.4:c.316_317del	NP_000135.2:p.Leu106SerfsTer5
NM_001161706.1:c.316_317del	NP_001155178.1:p.Leu106SerfsTer5
NM_181425.2:c.316_317del	NP_852090.1:p.Leu106SerfsTer5
NM_000144.5:c.316_317del MANE Select	NP_000135.2:p.Leu106SerfsTer5
NM_181425.3:c.316_317del	NP_852090.1:p.Leu106SerfsTer5