Canonical Allele Identifier: CA588325757

Gene: FXN

Linked Data

• dbSNP Id: rs1425184751
• gnomAD v2: 9-71687514-GTT-G
• gnomAD v4: 9-69072598-GTT-G
• MyVariant Identifiers: chr9:g.71687515_71687516del (hg19) ; chr9:g.69072599_69072600del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.69072601_69072602del , CM000671.2:g.69072601_69072602del	GRCh38
NC_000009.11:g.71687517_71687518del , CM000671.1:g.71687517_71687518del	GRCh37
NC_000009.10:g.70877337_70877338del	NCBI36
NG_008845.2:g.42039_42040del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377270.8:c.258-11_258-10del	ENSP00000366482.4:n.258-11_258-10del
ENST00000484259.3:c.483-11_483-10del MANE Select	ENSP00000419243.2:n.483-11_483-10del
ENST00000642330.1:c.384+19341_384+19342del	ENSP00000493770.1:n.384+19341_384+19342de...
ENST00000642889.1:c.166-27300_166-27299del	ENSP00000493780.1:n.166-27300_166-27299de...
ENST00000643352.1:c.482+7566_482+7567del	ENSP00000496488.1:n.482+7566_482+7567del
ENST00000643765.1:c.480+7566_480+7567del
ENST00000644653.1:c.*86-11_*86-10del	ENSP00000495217.1:n.*86-11_*86-10del
ENST00000644977.1:c.*207+7566_*207+7567del	ENSP00000495651.1:n.*207+7566_*207+7567de...
ENST00000645088.1:c.*85+7566_*85+7567del	ENSP00000495447.1:n.*85+7566_*85+7567del
ENST00000646862.1:c.384+19341_384+19342del	ENSP00000494599.1:n.384+19341_384+19342de...
ENST00000377270.7:c.483-11_483-10del	ENSP00000366482.3:n.483-11_483-10del
ENST00000396364.7:c.482+7566_482+7567del	ENSP00000379650.3:n.482+7566_482+7567del
ENST00000396366.6:c.491-11_491-10del	ENSP00000379652.2:n.491-11_491-10del
ENST00000484259.1:c.175-11_175-10del
ENST00000498653.5:c.258-11_258-10del	ENSP00000418015.1:n.258-11_258-10del
NM_000144.4:c.483-11_483-10del	NP_000135.2:n.483-11_483-10del
NM_001161706.1:c.482+7566_482+7567del	NP_001155178.1:n.482+7566_482+7567del
NM_181425.2:c.491-11_491-10del	NP_852090.1:n.491-11_491-10del
NM_000144.5:c.483-11_483-10del MANE Select	NP_000135.2:n.483-11_483-10del
NM_181425.3:c.491-11_491-10del	NP_852090.1:n.491-11_491-10del