Canonical Allele Identifier: CA10605738
Gene: FOXN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 287299
ClinVar RCV Id: RCV000379300
dbSNP Id: rs886043619

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28534766_28534796del , CM000679.2:g.28534766_28534796del GRCh38
NC_000017.10:g.26861784_26861814del , CM000679.1:g.26861784_26861814del GRCh37
NC_000017.9:g.23885911_23885941del NCBI36
NG_007260.1:g.15826_15856del , LRG_61:g.15826_15856del

Transcript Alleles

HGVS Amino-acid change
ENST00000577936.2:c.1195_1225del ENSP00000462159.2:p.Cys399ProfsTer?
ENST00000579795.6:c.1195_1225del MANE Select ENSP00000464645.1:p.Cys399ProfsTer?
ENST00000226247.2:c.1195_1225del ENSP00000226247.2:p.Cys399ProfsTer?
ENST00000481916.6:c.*1195+69256_*1195+69286del ENSP00000436369.2:n.*1195+69256_*1195+692...
ENST00000579795.5:c.1195_1225del ENSP00000464645.1:p.Cys399ProfsTer?
NM_003593.2:c.1195_1225del , LRG_61t1:c.1195_1225del NP_003584.2:p.Cys399ProfsTer?
XM_005258046.3:c.1195_1225del XP_005258103.1:p.Cys399ProfsTer?
XM_011525354.1:c.1252_1282del XP_011523656.1:p.Cys418ProfsTer?
XM_011525355.1:c.1249_1279del XP_011523657.1:p.Cys417ProfsTer?
XM_011525356.1:c.1249_1279del XP_011523658.1:p.Cys417ProfsTer?
XM_011525357.1:c.1231_1261del XP_011523659.1:p.Cys411ProfsTer?
XM_011525358.1:c.1198_1228del XP_011523660.1:p.Cys400ProfsTer?
XM_011525359.1:c.1198_1228del XP_011523661.1:p.Cys400ProfsTer?
XM_011525360.1:c.1198_1228del XP_011523662.1:p.Cys400ProfsTer?
XM_011525361.1:c.1195_1225del XP_011523663.1:p.Cys399ProfsTer?
XM_011525362.1:c.1195_1225del XP_011523664.1:p.Cys399ProfsTer?
XM_011525363.1:c.1193-187_1193-157del XP_011523665.1:n.1193-187_1193-157del
XM_011525364.1:c.730_760del XP_011523666.1:p.Cys244ProfsTer?
XM_011525365.1:c.1192+228_1192+258del XP_011523667.1:n.1192+228_1192+258del
XM_011525366.1:c.652_682del XP_011523668.1:p.Cys218ProfsTer?
XM_011525367.1:c.637_667del XP_011523669.1:p.Cys213ProfsTer?
XM_011525368.1:c.559_589del XP_011523670.1:p.Cys187ProfsTer?
XM_011525369.1:c.559_589del XP_011523671.1:p.Cys187ProfsTer?
XM_011525370.1:c.559_589del XP_011523672.1:p.Cys187ProfsTer?
XM_011525368.2:c.559_589del XP_011523670.1:p.Cys187ProfsTer?
XM_011525369.2:c.559_589del XP_011523671.1:p.Cys187ProfsTer?
XM_011525370.2:c.559_589del XP_011523672.1:p.Cys187ProfsTer?
XM_017025228.1:c.1195_1225del XP_016880717.1:p.Cys399ProfsTer?
XM_017025229.1:c.1139-187_1139-157del XP_016880718.1:n.1139-187_1139-157del
XM_017025230.1:c.1138+228_1138+258del XP_016880719.1:n.1138+228_1138+258del
XM_017025231.1:c.1139-228_1139-198del XP_016880720.1:n.1139-228_1139-198del
NM_001369369.1:c.1195_1225del MANE Select NP_001356298.1:p.Cys399ProfsTer?
NM_003593.3:c.1195_1225del NP_003584.2:p.Cys399ProfsTer?