Canonical Allele Identifier: CA193393111
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs146948377
gnomAD v4: 9-69065037-TA-T
MyVariant Identifiers: chr9:g.71679954del (hg19) chr9:g.69065038del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69065038del , CM000671.2:g.69065038del GRCh38
NC_000009.11:g.71679954del , CM000671.1:g.71679954del GRCh37
NC_000009.10:g.70869774del NCBI36
NG_008845.2:g.34476del

Transcript Alleles

HGVS Amino-acid change
ENST00000377270.8:c.257+3del ENSP00000366482.4:n.257+3del
ENST00000484259.3:c.482+3del MANE Select ENSP00000419243.2:n.482+3del
ENST00000642330.1:c.384+11778del ENSP00000493770.1:n.384+11778del
ENST00000642889.1:c.165+29091del ENSP00000493780.1:n.165+29091del
ENST00000643352.1:c.482+3del ENSP00000496488.1:n.482+3del
ENST00000643765.1:c.480+3del
ENST00000644653.1:c.*85+3del ENSP00000495217.1:n.*85+3del
ENST00000644977.1:c.*207+3del ENSP00000495651.1:n.*207+3del
ENST00000645088.1:c.*85+3del ENSP00000495447.1:n.*85+3del
ENST00000646862.1:c.384+11778del ENSP00000494599.1:n.384+11778del
ENST00000377270.7:c.482+3del ENSP00000366482.3:n.482+3del
ENST00000396364.7:c.482+3del ENSP00000379650.3:n.482+3del
ENST00000396366.6:c.485del ENSP00000379652.2:p.Tyr162LeufsTer2
ENST00000484259.1:c.174+3del
ENST00000498653.5:c.257+3del ENSP00000418015.1:n.257+3del
NM_000144.4:c.482+3del NP_000135.2:n.482+3del
NM_001161706.1:c.482+3del NP_001155178.1:n.482+3del
NM_181425.2:c.485del NP_852090.1:p.Tyr162LeufsTer2
NM_000144.5:c.482+3del MANE Select NP_000135.2:n.482+3del
NM_181425.3:c.485del NP_852090.1:p.Tyr162LeufsTer2
Search 100 bp 5'
Search 100 bp 3'