Canonical Allele Identifier: CA2806368040
Gene: IL4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362895_27362896insA , CM000678.2:g.27362895_27362896insA GRCh38
NC_000016.9:g.27374216_27374217insA , CM000678.1:g.27374216_27374217insA GRCh37
NC_000016.8:g.27281717_27281718insA NCBI36
NG_012086.1:g.53966_53967insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1543_1544insA MANE Select ENSP00000379111.2:p.Pro515HisfsTer24
ENST00000170630.6:c.1498_1499insA ENSP00000170630.3:p.Pro500HisfsTer24
ENST00000395762.6:c.1543_1544insA ENSP00000379111.2:p.Pro515HisfsTer24
ENST00000543915.6:c.1543_1544insA ENSP00000441667.2:p.Pro515HisfsTer24
ENST00000565352.1:c.230-1208_230-1207insA ENSP00000461268.1:n.230-1208_230-1207insA
ENST00000568746.5:c.*1586_*1587insA ENSP00000455714.1:n.*1586_*1587insA
NM_000418.3:c.1543_1544insA NP_000409.1:p.Pro515HisfsTer24
NM_001257406.1:c.1543_1544insA NP_001244335.1:p.Pro515HisfsTer24
NM_001257407.1:c.1498_1499insA NP_001244336.1:p.Pro500HisfsTer24
NM_001257997.1:c.1063_1064insA NP_001244926.1:p.Pro355HisfsTer24
XM_005255308.2:c.652_653insA XP_005255365.1:p.Pro218HisfsTer24
XM_006721043.1:c.592_593insA XP_006721106.1:p.Pro198HisfsTer24
XM_011545825.1:c.1543_1544insA XP_011544127.1:p.Pro515HisfsTer24
XM_011545826.1:c.1543_1544insA XP_011544128.1:p.Pro515HisfsTer24
XM_011545827.1:c.1543_1544insA XP_011544129.1:p.Pro515HisfsTer24
XM_011545828.1:c.1276_1277insA XP_011544130.1:p.Pro426HisfsTer24
XM_011545829.1:c.1246_1247insA XP_011544131.1:p.Pro416HisfsTer24
XM_011545830.1:c.1246_1247insA XP_011544132.1:p.Pro416HisfsTer24
XM_011545831.1:c.1246_1247insA XP_011544133.1:p.Pro416HisfsTer24
XM_011545832.1:c.1246_1247insA XP_011544134.1:p.Pro416HisfsTer24
XM_011545833.1:c.1246_1247insA XP_011544135.1:p.Pro416HisfsTer24
XM_011545834.1:c.1120_1121insA XP_011544136.1:p.Pro374HisfsTer24
XM_011545826.2:c.1543_1544insA XP_011544128.1:p.Pro515HisfsTer24
XM_011545827.2:c.1543_1544insA XP_011544129.1:p.Pro515HisfsTer24
XM_011545828.2:c.1276_1277insA XP_011544130.1:p.Pro426HisfsTer24
XM_011545830.2:c.1246_1247insA XP_011544132.1:p.Pro416HisfsTer24
XM_011545833.2:c.1246_1247insA XP_011544135.1:p.Pro416HisfsTer24
XM_011545834.2:c.1120_1121insA XP_011544136.1:p.Pro374HisfsTer24
NM_000418.4:c.1543_1544insA MANE Select NP_000409.1:p.Pro515HisfsTer24
NM_001257406.2:c.1543_1544insA NP_001244335.1:p.Pro515HisfsTer24
NM_001257407.2:c.1498_1499insA NP_001244336.1:p.Pro500HisfsTer24
NM_001257997.2:c.1063_1064insA NP_001244926.1:p.Pro355HisfsTer24