Canonical Allele Identifier: CA2690189588

Gene: FXN

Linked Data

• gnomAD v4: 9-69072483-A-AAT

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072483_69072484insAT , CM000671.2:g.69072483_69072484insAT	GRCh38
NC_000009.11:g.71687399_71687400insAT , CM000671.1:g.71687399_71687400insAT	GRCh37
NC_000009.10:g.70877219_70877220insAT	NCBI36
NG_008845.2:g.41921_41922insAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.258-129_258-128insAT	ENSP00000366482.4:n.258-129_258-128insAT
ENST00000484259.3:c.483-129_483-128insAT MANE Select	ENSP00000419243.2:n.483-129_483-128insAT
ENST00000642330.1:c.384+19223_384+19224insAT	ENSP00000493770.1:n.384+19223_384+19224insAT
ENST00000642889.1:c.166-27418_166-27417insAT	ENSP00000493780.1:n.166-27418_166-27417insAT
ENST00000643352.1:c.482+7448_482+7449insAT	ENSP00000496488.1:n.482+7448_482+7449insAT
ENST00000643765.1:c.480+7448_480+7449insAT
ENST00000644653.1:c.*86-129_*86-128insAT	ENSP00000495217.1:n.*86-129_*86-128insAT
ENST00000644977.1:c.*207+7448_*207+7449insAT	ENSP00000495651.1:n.*207+7448_*207+7449insAT
ENST00000645088.1:c.*85+7448_*85+7449insAT	ENSP00000495447.1:n.*85+7448_*85+7449insAT
ENST00000646862.1:c.384+19223_384+19224insAT	ENSP00000494599.1:n.384+19223_384+19224insAT
ENST00000377270.7:c.483-129_483-128insAT	ENSP00000366482.3:n.483-129_483-128insAT
ENST00000396364.7:c.482+7448_482+7449insAT	ENSP00000379650.3:n.482+7448_482+7449insAT
ENST00000396366.6:c.491-129_491-128insAT	ENSP00000379652.2:n.491-129_491-128insAT
ENST00000484259.1:c.175-129_175-128insAT
ENST00000498653.5:c.258-129_258-128insAT	ENSP00000418015.1:n.258-129_258-128insAT
NM_000144.4:c.483-129_483-128insAT	NP_000135.2:n.483-129_483-128insAT
NM_001161706.1:c.482+7448_482+7449insAT	NP_001155178.1:n.482+7448_482+7449insAT
NM_181425.2:c.491-129_491-128insAT	NP_852090.1:n.491-129_491-128insAT
NM_000144.5:c.483-129_483-128insAT MANE Select	NP_000135.2:n.483-129_483-128insAT
NM_181425.3:c.491-129_491-128insAT	NP_852090.1:n.491-129_491-128insAT