Canonical Allele Identifier: CA277339
Gene: FOXP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 211046
ClinVar RCV Id: RCV000194536
dbSNP Id: rs797045588
MyVariant Identifiers: chrX:g.49112184del (hg19) chrX:g.49255723del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.49255724del , CM000685.2:g.49255724del GRCh38
NC_000023.10:g.49112185del , CM000685.1:g.49112185del GRCh37
NC_000023.9:g.48999129del NCBI36
NG_007392.1:g.14105del , LRG_62:g.14105del

Transcript Alleles

HGVS Amino-acid change
ENST00000376199.7:c.622del ENSP00000365372.2:p.Glu208SerfsTer11
ENST00000376207.10:c.727del MANE Select ENSP00000365380.4:p.Glu243SerfsTer11
ENST00000455775.7:c.796del ENSP00000396415.3:p.Glu266SerfsTer11
ENST00000518685.6:c.727del ENSP00000428952.2:p.Glu243SerfsTer14
ENST00000557224.6:c.622del ENSP00000451208.1:p.Glu208SerfsTer11
ENST00000651307.1:c.727del ENSP00000498454.1:p.Glu243SerfsTer11
ENST00000376197.1:c.577del ENSP00000365369.1:p.Glu193SerfsTer11
ENST00000376199.6:c.622del ENSP00000365372.2:p.Glu208SerfsTer11
ENST00000376207.8:c.727del ENSP00000365380.4:p.Glu243SerfsTer11
ENST00000455775.6:c.796del ENSP00000396415.3:p.Glu266SerfsTer11
ENST00000518685.5:c.622del ENSP00000428952.1:p.Glu208SerfsTer11
ENST00000557224.5:c.622del ENSP00000451208.1:p.Glu208SerfsTer11
NM_001114377.1:c.622del NP_001107849.1:p.Glu208SerfsTer11
NM_014009.3:c.727del , LRG_62t1:c.727del NP_054728.2:p.Glu243SerfsTer11
XM_006724533.2:c.796del XP_006724596.2:p.Glu266SerfsTer11
XM_011543915.1:c.946del XP_011542217.1:p.Glu316SerfsTer11
XM_011543916.1:c.946del XP_011542218.1:p.Glu316SerfsTer11
XM_011543917.1:c.745del XP_011542219.1:p.Glu249SerfsTer11
XM_011543918.1:c.982del XP_011542220.1:p.Glu328SerfsTer11
XM_011543919.1:c.946del XP_011542221.1:p.Glu316SerfsTer11
XM_017029567.1:c.673del XP_016885056.1:p.Glu225SerfsTer11
NM_001114377.2:c.622del NP_001107849.1:p.Glu208SerfsTer11
NM_014009.4:c.727del MANE Select NP_054728.2:p.Glu243SerfsTer11
Search 100 bp 5'
Search 100 bp 3'