Canonical Allele Identifier: CA891842757

Gene: FXN

Linked Data

• ClinVar Variation Id: 585887
• ClinVar RCV Id: RCV000711714
• dbSNP Id: rs1564326640
• MyVariant Identifiers: chr9:g.71650865_71650866insTT (hg19) ; chr9:g.69035949_69035950insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69035949_69035950insTT , CM000671.2:g.69035949_69035950insTT	GRCh38
NC_000009.11:g.71650865_71650866insTT , CM000671.1:g.71650865_71650866insTT	GRCh37
NC_000009.10:g.70840685_70840686insTT	NCBI36
NG_008845.2:g.5387_5388insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000484259.3:c.165+2_165+3insTT MANE Select	ENSP00000419243.2:n.165+2_165+3insTT
ENST00000642330.1:c.165+2_165+3insTT	ENSP00000493770.1:n.165+2_165+3insTT
ENST00000642889.1:c.165+2_165+3insTT	ENSP00000493780.1:n.165+2_165+3insTT
ENST00000643352.1:c.165+2_165+3insTT	ENSP00000496488.1:n.165+2_165+3insTT
ENST00000643765.1:c.163+2_163+3insTT
ENST00000644653.1:c.165+2_165+3insTT	ENSP00000495217.1:n.165+2_165+3insTT
ENST00000644977.1:c.165+2_165+3insTT	ENSP00000495651.1:n.165+2_165+3insTT
ENST00000645088.1:c.165+2_165+3insTT	ENSP00000495447.1:n.165+2_165+3insTT
ENST00000646862.1:c.165+2_165+3insTT	ENSP00000494599.1:n.165+2_165+3insTT
ENST00000377270.7:c.165+2_165+3insTT	ENSP00000366482.3:n.165+2_165+3insTT
ENST00000396364.7:c.165+2_165+3insTT	ENSP00000379650.3:n.165+2_165+3insTT
ENST00000396366.6:c.165+2_165+3insTT	ENSP00000379652.2:n.165+2_165+3insTT
NM_000144.4:c.165+2_165+3insTT	NP_000135.2:n.165+2_165+3insTT
NM_001161706.1:c.165+2_165+3insTT	NP_001155178.1:n.165+2_165+3insTT
NM_181425.2:c.165+2_165+3insTT	NP_852090.1:n.165+2_165+3insTT
NM_000144.5:c.165+2_165+3insTT MANE Select	NP_000135.2:n.165+2_165+3insTT
NM_181425.3:c.165+2_165+3insTT	NP_852090.1:n.165+2_165+3insTT