Canonical Allele Identifier: CA1854052007

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065037_69065038delinsTA , CM000671.2:g.69065037_69065038delinsTA	GRCh38
NC_000009.11:g.71679953_71679954delinsTA , CM000671.1:g.71679953_71679954delinsTA	GRCh37
NC_000009.10:g.70869773_70869774delinsTA	NCBI36
NG_008845.2:g.34475_34476delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.257+2_257+3delinsTA	ENSP00000366482.4:n.257+2_257+3delinsTA
ENST00000484259.3:c.482+2_482+3delinsTA MANE Select	ENSP00000419243.2:n.482+2_482+3delinsTA
ENST00000642330.1:c.384+11777_384+11778delinsTA	ENSP00000493770.1:n.384+11777_384+11778delinsTA
ENST00000642889.1:c.165+29090_165+29091delinsTA	ENSP00000493780.1:n.165+29090_165+29091delinsTA
ENST00000643352.1:c.482+2_482+3delinsTA	ENSP00000496488.1:n.482+2_482+3delinsTA
ENST00000643765.1:c.480+2_480+3delinsTA
ENST00000644653.1:c.*85+2_*85+3delinsTA	ENSP00000495217.1:n.*85+2_*85+3delinsTA
ENST00000644977.1:c.*207+2_*207+3delinsTA	ENSP00000495651.1:n.*207+2_*207+3delinsTA
ENST00000645088.1:c.*85+2_*85+3delinsTA	ENSP00000495447.1:n.*85+2_*85+3delinsTA
ENST00000646862.1:c.384+11777_384+11778delinsTA	ENSP00000494599.1:n.384+11777_384+11778delinsTA
ENST00000377270.7:c.482+2_482+3delinsTA	ENSP00000366482.3:n.482+2_482+3delinsTA
ENST00000396364.7:c.482+2_482+3delinsTA	ENSP00000379650.3:n.482+2_482+3delinsTA
ENST00000396366.6:c.484_485delinsTA	ENSP00000379652.2:p.Tyr162=
ENST00000484259.1:c.174+2_174+3delinsTA
ENST00000498653.5:c.257+2_257+3delinsTA	ENSP00000418015.1:n.257+2_257+3delinsTA
NM_000144.4:c.482+2_482+3delinsTA	NP_000135.2:n.482+2_482+3delinsTA
NM_001161706.1:c.482+2_482+3delinsTA	NP_001155178.1:n.482+2_482+3delinsTA
NM_181425.2:c.484_485delinsTA	NP_852090.1:p.Tyr162=
NM_000144.5:c.482+2_482+3delinsTA MANE Select	NP_000135.2:n.482+2_482+3delinsTA
NM_181425.3:c.484_485delinsTA	NP_852090.1:p.Tyr162=