Canonical Allele Identifier: CA10584036
Gene: FOXP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 242949
ClinVar RCV Id: RCV000234941
dbSNP Id: rs879253771

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.114652276_114652277del , CM000669.2:g.114652276_114652277del GRCh38
NC_000007.13:g.114292331_114292332del , CM000669.1:g.114292331_114292332del GRCh37
NC_000007.12:g.114079567_114079568del NCBI36
NG_007491.2:g.570967_570968del
NG_007491.3:g.570967_570968del

Transcript Alleles

HGVS Amino-acid change
ENST00000403559.9:c.1219_1220del ENSP00000385069.4:p.Gln407ValfsTer7
ENST00000703612.1:c.1159_1160del ENSP00000515396.1:p.Gln387ValfsTer7
ENST00000703613.1:c.1219_1220del ENSP00000515397.1:p.Gln407ValfsTer7
ENST00000703614.1:c.1168_1169del ENSP00000515398.1:p.Gln390ValfsTer7
ENST00000703616.1:c.1294_1295del ENSP00000515400.1:p.Gln432ValfsTer7
ENST00000703617.1:c.892_893del ENSP00000515401.1:p.Gln298ValfsTer7
ENST00000703618.1:c.446_447del
ENST00000350908.9:c.1168_1169del MANE Select ENSP00000265436.7:p.Gln390ValfsTer7
ENST00000393489.8:c.*962_*963del ENSP00000377129.4:n.*962_*963del
ENST00000350908.8:c.1168_1169del ENSP00000265436.7:p.Gln390ValfsTer7
ENST00000360232.8:c.1168_1169del ENSP00000353367.4:p.Gln390ValfsTer7
ENST00000390668.3:c.1240_1241del ENSP00000375084.3:p.Gln414ValfsTer7
ENST00000393489.7:c.892_893del ENSP00000377129.3:p.Gln298ValfsTer7
ENST00000393491.7:c.892_893del ENSP00000377130.3:p.Gln298ValfsTer7
ENST00000393494.6:c.1168_1169del ENSP00000377132.2:p.Gln390ValfsTer7
ENST00000393498.6:c.1105_1106del ENSP00000377135.2:p.Gln369ValfsTer7
ENST00000403559.8:c.1219_1220del ENSP00000385069.4:p.Gln407ValfsTer7
ENST00000408937.7:c.1243_1244del ENSP00000386200.3:p.Gln415ValfsTer7
ENST00000412402.5:c.*1088_*1089del ENSP00000405470.1:n.*1088_*1089del
ENST00000441290.6:c.*1013_*1014del ENSP00000416825.1:n.*1013_*1014del
ENST00000634372.1:n.295_296del
ENST00000634411.1:c.1117_1118del ENSP00000489135.1:p.Gln373ValfsTer7
ENST00000634623.1:c.1108_1109del ENSP00000488944.1:p.Gln370ValfsTer7
ENST00000635109.1:c.*965_*966del ENSP00000489457.1:n.*965_*966del
ENST00000635534.1:c.1159_1160del ENSP00000489229.1:p.Gln387ValfsTer7
ENST00000635638.1:c.1171_1172del ENSP00000489073.1:p.Gln391ValfsTer7
NM_001172766.2:c.1165_1166del NP_001166237.1:p.Gln389ValfsTer7
NM_001172767.2:c.1243_1244del NP_001166238.1:p.Gln415ValfsTer7
NM_014491.3:c.1168_1169del NP_055306.1:p.Gln390ValfsTer7
NM_148898.3:c.1243_1244del NP_683696.2:p.Gln415ValfsTer7
NM_148899.3:c.1168_1169del NP_683697.2:p.Gln390ValfsTer7
NM_148900.3:c.1219_1220del NP_683698.2:p.Gln407ValfsTer7
NR_033766.1:n.1755_1756del
NR_033767.1:n.1600_1601del
XM_011516706.1:c.1312_1313del XP_011515008.1:p.Gln438ValfsTer7
XM_017012801.2:c.1243_1244del XP_016868290.1:p.Gln415ValfsTer7
NM_014491.4:c.1168_1169del MANE Select NP_055306.1:p.Gln390ValfsTer7
NM_001172766.3:c.1165_1166del NP_001166237.1:p.Gln389ValfsTer7
NM_148898.4:c.1243_1244del NP_683696.2:p.Gln415ValfsTer7
NR_033766.2:n.1738_1739del
NR_033767.2:n.1782_1783del
NM_148900.4:c.1219_1220del NP_683698.2:p.Gln407ValfsTer7