Canonical Allele Identifier: CA16618348
Gene: FOXP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419394
ClinVar RCV Id: RCV000478073
dbSNP Id: rs1064793842

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.114662140del , CM000669.2:g.114662140del GRCh38
NC_000007.13:g.114302195del , CM000669.1:g.114302195del GRCh37
NC_000007.12:g.114089431del NCBI36
NG_007491.2:g.580831del
NG_007491.3:g.580831del

Transcript Alleles

HGVS Amino-acid change
ENST00000403559.9:c.1774del ENSP00000385069.4:p.Val592TrpfsTer4
ENST00000703612.1:c.1714del ENSP00000515396.1:p.Val572TrpfsTer4
ENST00000703613.1:c.1774del ENSP00000515397.1:p.Val592TrpfsTer4
ENST00000703614.1:c.1723del ENSP00000515398.1:p.Val575TrpfsTer4
ENST00000703616.1:c.1849del ENSP00000515400.1:p.Val617TrpfsTer4
ENST00000703617.1:c.1168del ENSP00000515401.1:p.Val390TrpfsTer4
ENST00000703618.1:c.620del
ENST00000350908.9:c.1723del MANE Select ENSP00000265436.7:p.Val575TrpfsTer4
ENST00000393489.8:c.*1517del ENSP00000377129.4:n.*1517del
ENST00000350908.8:c.1723del ENSP00000265436.7:p.Val575TrpfsTer4
ENST00000393489.7:c.1447del ENSP00000377129.3:p.Val483TrpfsTer4
ENST00000393491.7:c.1168del ENSP00000377130.3:p.Val390TrpfsTer4
ENST00000393494.6:c.1723del ENSP00000377132.2:p.Val575TrpfsTer4
ENST00000393498.6:c.1660del ENSP00000377135.2:p.Val554TrpfsTer4
ENST00000403559.8:c.1774del ENSP00000385069.4:p.Val592TrpfsTer4
ENST00000408937.7:c.1798del ENSP00000386200.3:p.Val600TrpfsTer4
ENST00000412402.5:c.*1441del ENSP00000405470.1:n.*1441del
ENST00000441290.6:c.*1723del ENSP00000416825.1:n.*1723del
ENST00000634411.1:c.1672del ENSP00000489135.1:p.Val558TrpfsTer4
ENST00000634623.1:c.1663del ENSP00000488944.1:p.Val555TrpfsTer4
ENST00000634664.1:n.198del
ENST00000635109.1:c.*1520del ENSP00000489457.1:n.*1520del
ENST00000635534.1:c.1714del ENSP00000489229.1:p.Val572TrpfsTer4
ENST00000635638.1:c.1726del ENSP00000489073.1:p.Val576TrpfsTer4
NM_001172766.2:c.1720del NP_001166237.1:p.Val574TrpfsTer4
NM_014491.3:c.1723del NP_055306.1:p.Val575TrpfsTer4
NM_148898.3:c.1798del NP_683696.2:p.Val600TrpfsTer4
NM_148900.3:c.1774del NP_683698.2:p.Val592TrpfsTer4
NR_033766.1:n.2108del
NR_033767.1:n.2155del
XM_011516706.1:c.1867del XP_011515008.1:p.Val623TrpfsTer4
XM_017012801.2:c.1798del XP_016868290.1:p.Val600TrpfsTer4
NM_014491.4:c.1723del MANE Select NP_055306.1:p.Val575TrpfsTer4
NM_001172766.3:c.1720del NP_001166237.1:p.Val574TrpfsTer4
NM_148898.4:c.1798del NP_683696.2:p.Val600TrpfsTer4
NR_033766.2:n.2091del
NR_033767.2:n.2337del
NM_148900.4:c.1774del NP_683698.2:p.Val592TrpfsTer4