Canonical Allele Identifier: CA255861
Gene: FOXP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 11413
ClinVar RCV Id: RCV000012166
dbSNP Id: rs122467171

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255494_49255496del , CM000685.2:g.49255494_49255496del GRCh38
NC_000023.10:g.49111955_49111957del , CM000685.1:g.49111955_49111957del GRCh37
NC_000023.9:g.48998899_48998901del NCBI36
NG_007392.1:g.14334_14336del , LRG_62:g.14334_14336del
NG_021311.2:g.25030_25032del

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.646_648del ENSP00000365372.2:p.Glu216del
ENST00000376207.10:c.751_753del MANE Select ENSP00000365380.4:p.Glu251del
ENST00000455775.7:c.820_822del ENSP00000396415.3:p.Glu274del
ENST00000518685.6:c.735+221_735+223del ENSP00000428952.2:n.735+221_735+223del
ENST00000557224.6:c.646_648del ENSP00000451208.1:p.Glu216del
ENST00000651307.1:c.751_753del ENSP00000498454.1:p.Glu251del
ENST00000376197.1:c.601_603del ENSP00000365369.1:p.Glu201del
ENST00000376199.6:c.646_648del ENSP00000365372.2:p.Glu216del
ENST00000376207.8:c.751_753del ENSP00000365380.4:p.Glu251del
ENST00000455775.6:c.820_822del ENSP00000396415.3:p.Glu274del
ENST00000518685.5:c.646_648del ENSP00000428952.1:p.Glu216del
ENST00000557224.5:c.646_648del ENSP00000451208.1:p.Glu216del
NM_001114377.1:c.646_648del NP_001107849.1:p.Glu216del
NM_014009.3:c.751_753del , LRG_62t1:c.751_753del NP_054728.2:p.Glu251del
XM_006724533.2:c.820_822del XP_006724596.2:p.Glu274del
XM_011543915.1:c.970_972del XP_011542217.1:p.Glu324del
XM_011543916.1:c.970_972del XP_011542218.1:p.Glu324del
XM_011543917.1:c.769_771del XP_011542219.1:p.Glu257del
XM_011543918.1:c.1006_1008del XP_011542220.1:p.Glu336del
XM_011543919.1:c.970_972del XP_011542221.1:p.Glu324del
XM_017029567.1:c.697_699del XP_016885056.1:p.Glu233del
NM_001114377.2:c.646_648del NP_001107849.1:p.Glu216del
NM_014009.4:c.751_753del MANE Select NP_054728.2:p.Glu251del