Canonical Allele Identifier: CA2784519679

Gene: FXN

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69065007_69065008insCACCC , CM000671.2:g.69065007_69065008insCACCC	GRCh38
NC_000009.11:g.71679923_71679924insCACCC , CM000671.1:g.71679923_71679924insCACCC	GRCh37
NC_000009.10:g.70869743_70869744insCACCC	NCBI36
NG_008845.2:g.34445_34446insCACCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377270.8:c.229_230insCACCC	ENSP00000366482.4:p.Lys77ThrfsTer?
ENST00000484259.3:c.454_455insCACCC MANE Select	ENSP00000419243.2:p.Lys152ThrfsTer?
ENST00000642330.1:c.384+11747_384+11748insCACCC	ENSP00000493770.1:n.384+11747_384+11748insCACCC
ENST00000642889.1:c.165+29060_165+29061insCACCC	ENSP00000493780.1:n.165+29060_165+29061insCACCC
ENST00000643352.1:c.454_455insCACCC	ENSP00000496488.1:p.Lys152ThrfsTer13
ENST00000643765.1:c.452_453insCACCC
ENST00000644653.1:c.*57_*58insCACCC	ENSP00000495217.1:n.*57_*58insCACCC
ENST00000644977.1:c.*179_*180insCACCC	ENSP00000495651.1:n.*179_*180insCACCC
ENST00000645088.1:c.*57_*58insCACCC	ENSP00000495447.1:n.*57_*58insCACCC
ENST00000646862.1:c.384+11747_384+11748insCACCC	ENSP00000494599.1:n.384+11747_384+11748insCACCC
ENST00000377270.7:c.454_455insCACCC	ENSP00000366482.3:p.Lys152ThrfsTer?
ENST00000396364.7:c.454_455insCACCC	ENSP00000379650.3:p.Lys152ThrfsTer13
ENST00000396366.6:c.454_455insCACCC	ENSP00000379652.2:p.Lys152ThrfsTer14
ENST00000484259.1:c.146_147insCACCC
ENST00000498653.5:c.229_230insCACCC	ENSP00000418015.1:p.Lys77ThrfsTer?
NM_000144.4:c.454_455insCACCC	NP_000135.2:p.Lys152ThrfsTer?
NM_001161706.1:c.454_455insCACCC	NP_001155178.1:p.Lys152ThrfsTer13
NM_181425.2:c.454_455insCACCC	NP_852090.1:p.Lys152ThrfsTer14
NM_000144.5:c.454_455insCACCC MANE Select	NP_000135.2:p.Lys152ThrfsTer?
NM_181425.3:c.454_455insCACCC	NP_852090.1:p.Lys152ThrfsTer14