Canonical Allele Identifier: CA588207405

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69053511_69053512insTGGATG , CM000671.2:g.69053511_69053512insTGGATG	GRCh38
NC_000009.11:g.71668427_71668428insTGGATG , CM000671.1:g.71668427_71668428insTGGATG	GRCh37
NC_000009.10:g.70858247_70858248insTGGATG	NCBI36
NG_008845.2:g.22949_22950insTGGATG

Transcript Alleles

HGVS	Amino-acid Change
NM_000144.5:c.384+251_384+252insTGGATG MANE Select	NP_000135.2:n.384+251_384+252insTGGATG
ENST00000484259.3:c.384+251_384+252insTGGATG MANE Select	ENSP00000419243.2:n.384+251_384+252insTGGATG
NM_000144.4:c.384+251_384+252insTGGATG	NP_000135.2:n.384+251_384+252insTGGATG
NM_001161706.1:c.384+251_384+252insTGGATG	NP_001155178.1:n.384+251_384+252insTGGATG
NM_181425.2:c.384+251_384+252insTGGATG	NP_852090.1:n.384+251_384+252insTGGATG
NM_181425.3:c.384+251_384+252insTGGATG	NP_852090.1:n.384+251_384+252insTGGATG
ENST00000377270.7:c.384+251_384+252insTGGATG	ENSP00000366482.3:n.384+251_384+252insTGGATG
ENST00000377270.8:c.159+251_159+252insTGGATG	ENSP00000366482.4:n.159+251_159+252insTGGATG
ENST00000396364.7:c.384+251_384+252insTGGATG	ENSP00000379650.3:n.384+251_384+252insTGGATG
ENST00000396366.6:c.384+251_384+252insTGGATG	ENSP00000379652.2:n.384+251_384+252insTGGATG
ENST00000484259.1:c.76+7029_76+7030insTGGATG
ENST00000498653.5:c.159+251_159+252insTGGATG	ENSP00000418015.1:n.159+251_159+252insTGGATG
ENST00000642330.1:c.384+251_384+252insTGGATG	ENSP00000493770.1:n.384+251_384+252insTGGATG
ENST00000642889.1:c.165+17564_165+17565insTGGATG	ENSP00000493780.1:n.165+17564_165+17565insTGGATG
ENST00000643352.1:c.384+251_384+252insTGGATG	ENSP00000496488.1:n.384+251_384+252insTGGATG
ENST00000643765.1:c.382+251_382+252insTGGATG
ENST00000644653.1:c.263+7029_263+7030insTGGATG	ENSP00000495217.1:n.263+7029_263+7030insTGGATG
ENST00000644977.1:c.*109+251_*109+252insTGGATG	ENSP00000495651.1:n.*109+251_*109+252insTGGATG
ENST00000645088.1:c.263+7029_263+7030insTGGATG	ENSP00000495447.1:n.263+7029_263+7030insTGGATG
ENST00000646862.1:c.384+251_384+252insTGGATG	ENSP00000494599.1:n.384+251_384+252insTGGATG