Canonical Allele Identifier: CA2690187573
Gene: FXN HGNC NCBI

Linked Data

dbSNP Id: rs2133086415
gnomAD v4: 9-69035708-T-TGCGGCCAGTGGCCACCAGGGGTC
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.69035711_69035733dup , CM000671.2:g.69035711_69035733dup GRCh38
NC_000009.11:g.71650627_71650649dup , CM000671.1:g.71650627_71650649dup GRCh37
NC_000009.10:g.70840447_70840469dup NCBI36
NG_008845.2:g.5149_5171dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377270.7:c.-72_-50dup ENSP00000366482.3:n.-72_-50dup
ENST00000396364.7:c.-72_-50dup ENSP00000379650.3:n.-72_-50dup
NM_000144.4:c.-72_-50dup NP_000135.2:n.-72_-50dup
NM_001161706.1:c.-72_-50dup NP_001155178.1:n.-72_-50dup
NM_181425.2:c.-72_-50dup NP_852090.1:n.-72_-50dup
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