Canonical Allele Identifier: CA193369008
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs138837292
gnomAD v4: 9-69035880-TG-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035882del , CM000671.2:g.69035882del GRCh38
NC_000009.11:g.71650798del , CM000671.1:g.71650798del GRCh37
NC_000009.10:g.70840618del NCBI36
NG_008845.2:g.5320del

Transcript Alleles

HGVS Amino-acid change
ENST00000484259.3:c.100del MANE Select ENSP00000419243.2:p.Ala34ProfsTer?
ENST00000642330.1:c.100del ENSP00000493770.1:p.Ala34ProfsTer?
ENST00000642889.1:c.100del ENSP00000493780.1:p.Ala34ProfsTer?
ENST00000643352.1:c.100del ENSP00000496488.1:p.Ala34ProfsTer?
ENST00000643765.1:c.98del
ENST00000644653.1:c.100del ENSP00000495217.1:p.Ala34ProfsTer?
ENST00000644977.1:c.100del ENSP00000495651.1:p.Ala34ProfsTer?
ENST00000645088.1:c.100del ENSP00000495447.1:p.Ala34ProfsTer?
ENST00000646862.1:c.100del ENSP00000494599.1:p.Ala34ProfsTer?
ENST00000377270.7:c.100del ENSP00000366482.3:p.Ala34ProfsTer?
ENST00000396364.7:c.100del ENSP00000379650.3:p.Ala34ProfsTer?
ENST00000396366.6:c.100del ENSP00000379652.2:p.Ala34ProfsTer?
NM_000144.4:c.100del NP_000135.2:p.Ala34ProfsTer?
NM_001161706.1:c.100del NP_001155178.1:p.Ala34ProfsTer?
NM_181425.2:c.100del NP_852090.1:p.Ala34ProfsTer?
NM_000144.5:c.100del MANE Select NP_000135.2:p.Ala34ProfsTer?
NM_181425.3:c.100del NP_852090.1:p.Ala34ProfsTer?
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