Canonical Allele Identifier: CA10587673
Gene: FXN HGNC NCBI

Linked Data

ClinVar Variation Id: 263606
ClinVar RCV Id: RCV002310848 RCV003324738
dbSNP Id: rs143232208
gnomAD v4: 9-69035789-ACT-A
MyVariant Identifiers: chr9:g.71650709_71650710del (hg19) chr9:g.69035793_69035794del (hg38)
PubMed: PMID:15376485 PMID:26339677
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035793_69035794del , CM000671.2:g.69035793_69035794del GRCh38
NC_000009.11:g.71650709_71650710del , CM000671.1:g.71650709_71650710del GRCh37
NC_000009.10:g.70840529_70840530del NCBI36
NG_008845.2:g.5231_5232del

Transcript Alleles

HGVS Amino-acid change
ENST00000484259.3:c.11_12del MANE Select ENSP00000419243.2:p.Leu4ArgfsTer?
ENST00000642330.1:c.11_12del ENSP00000493770.1:p.Leu4ArgfsTer?
ENST00000642889.1:c.11_12del ENSP00000493780.1:p.Leu4ArgfsTer?
ENST00000643352.1:c.11_12del ENSP00000496488.1:p.Leu4ArgfsTer?
ENST00000643765.1:c.9_10del
ENST00000644653.1:c.11_12del ENSP00000495217.1:p.Leu4ArgfsTer?
ENST00000644977.1:c.11_12del ENSP00000495651.1:p.Leu4ArgfsTer?
ENST00000645088.1:c.11_12del ENSP00000495447.1:p.Leu4ArgfsTer?
ENST00000646862.1:c.11_12del ENSP00000494599.1:p.Leu4ArgfsTer?
ENST00000377270.7:c.11_12del ENSP00000366482.3:p.Leu4ArgfsTer?
ENST00000396364.7:c.11_12del ENSP00000379650.3:p.Leu4ArgfsTer?
ENST00000396366.6:c.11_12del ENSP00000379652.2:p.Leu4ArgfsTer?
NM_000144.4:c.11_12del NP_000135.2:p.Leu4ArgfsTer?
NM_001161706.1:c.11_12del NP_001155178.1:p.Leu4ArgfsTer?
NM_181425.2:c.11_12del NP_852090.1:p.Leu4ArgfsTer?
NM_000144.5:c.11_12del MANE Select NP_000135.2:p.Leu4ArgfsTer?
NM_181425.3:c.11_12del NP_852090.1:p.Leu4ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'