Canonical Allele Identifier: CA10575562
Gene: FXN HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69053247_69053252delinsTACACCTTGAGGACA , CM000671.2:g.69053247_69053252delinsTACACCTTGAGGACA GRCh38
NC_000009.11:g.71668163_71668168delinsTACACCTTGAGGACA , CM000671.1:g.71668163_71668168delinsTACACCTTGAGGACA GRCh37
NC_000009.10:g.70857983_70857988delinsTACACCTTGAGGACA NCBI36
NG_008845.2:g.22685_22690delinsTACACCTTGAGGACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.8:c.146_151delinsTACACCTTGAGGACA ENSP00000366482.4:p.Asp49_Ser51delinsValHisLeuGluAspThr
ENST00000484259.3:c.371_376delinsTACACCTTGAGGACA MANE Select ENSP00000419243.2:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000642330.1:c.371_376delinsTACACCTTGAGGACA ENSP00000493770.1:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000642889.1:c.165+17300_165+17305delinsTACACCTTGAGGACA ENSP00000493780.1:n.165+17300_165+17305delinsTACACCTTGAGGACA
ENST00000643352.1:c.371_376delinsTACACCTTGAGGACA ENSP00000496488.1:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000643765.1:c.369_374delinsTACACCTTGAGGACA
ENST00000644653.1:c.263+6765_263+6770delinsTACACCTTGAGGACA ENSP00000495217.1:n.263+6765_263+6770delinsTACACCTTGAGGACA
ENST00000644977.1:c.*96_*101delinsTACACCTTGAGGACA ENSP00000495651.1:n.*96_*101delinsTACACCTTGAGGACA
ENST00000645088.1:c.263+6765_263+6770delinsTACACCTTGAGGACA ENSP00000495447.1:n.263+6765_263+6770delinsTACACCTTGAGGACA
ENST00000646862.1:c.371_376delinsTACACCTTGAGGACA ENSP00000494599.1:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000377270.7:c.371_376delinsTACACCTTGAGGACA ENSP00000366482.3:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000396364.7:c.371_376delinsTACACCTTGAGGACA ENSP00000379650.3:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000396366.6:c.371_376delinsTACACCTTGAGGACA ENSP00000379652.2:p.Asp124_Ser126delinsValHisLeuGluAspThr
ENST00000484259.1:c.76+6765_76+6770delinsTACACCTTGAGGACA
ENST00000498653.5:c.146_151delinsTACACCTTGAGGACA ENSP00000418015.1:p.Asp49_Ser51delinsValHisLeuGluAspThr
NM_000144.4:c.371_376delinsTACACCTTGAGGACA NP_000135.2:p.Asp124_Ser126delinsValHisLeuGluAspThr
NM_001161706.1:c.371_376delinsTACACCTTGAGGACA NP_001155178.1:p.Asp124_Ser126delinsValHisLeuGluAspThr
NM_181425.2:c.371_376delinsTACACCTTGAGGACA NP_852090.1:p.Asp124_Ser126delinsValHisLeuGluAspThr
NM_000144.5:c.371_376delinsTACACCTTGAGGACA MANE Select NP_000135.2:p.Asp124_Ser126delinsValHisLeuGluAspThr
NM_181425.3:c.371_376delinsTACACCTTGAGGACA NP_852090.1:p.Asp124_Ser126delinsValHisLeuGluAspThr
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