Canonical Allele Identifier: CA2806368046
Gene: IL4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362915del , CM000678.2:g.27362915del GRCh38
NC_000016.9:g.27374236del , CM000678.1:g.27374236del GRCh37
NC_000016.8:g.27281737del NCBI36
NG_012086.1:g.53986del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1563del MANE Select ENSP00000379111.2:p.Arg521SerfsTer6
ENST00000170630.6:c.1518del ENSP00000170630.3:p.Arg506SerfsTer6
ENST00000395762.6:c.1563del ENSP00000379111.2:p.Arg521SerfsTer6
ENST00000543915.6:c.1563del ENSP00000441667.2:p.Arg521SerfsTer6
ENST00000565352.1:c.230-1188del ENSP00000461268.1:n.230-1188del
ENST00000568746.5:c.*1606del ENSP00000455714.1:n.*1606del
NM_000418.3:c.1563del NP_000409.1:p.Arg521SerfsTer6
NM_001257406.1:c.1563del NP_001244335.1:p.Arg521SerfsTer6
NM_001257407.1:c.1518del NP_001244336.1:p.Arg506SerfsTer6
NM_001257997.1:c.1083del NP_001244926.1:p.Arg361SerfsTer6
XM_005255308.2:c.672del XP_005255365.1:p.Arg224SerfsTer6
XM_006721043.1:c.612del XP_006721106.1:p.Arg204SerfsTer6
XM_011545825.1:c.1563del XP_011544127.1:p.Arg521SerfsTer6
XM_011545826.1:c.1563del XP_011544128.1:p.Arg521SerfsTer6
XM_011545827.1:c.1563del XP_011544129.1:p.Arg521SerfsTer6
XM_011545828.1:c.1296del XP_011544130.1:p.Arg432SerfsTer6
XM_011545829.1:c.1266del XP_011544131.1:p.Arg422SerfsTer6
XM_011545830.1:c.1266del XP_011544132.1:p.Arg422SerfsTer6
XM_011545831.1:c.1266del XP_011544133.1:p.Arg422SerfsTer6
XM_011545832.1:c.1266del XP_011544134.1:p.Arg422SerfsTer6
XM_011545833.1:c.1266del XP_011544135.1:p.Arg422SerfsTer6
XM_011545834.1:c.1140del XP_011544136.1:p.Arg380SerfsTer6
XM_011545826.2:c.1563del XP_011544128.1:p.Arg521SerfsTer6
XM_011545827.2:c.1563del XP_011544129.1:p.Arg521SerfsTer6
XM_011545828.2:c.1296del XP_011544130.1:p.Arg432SerfsTer6
XM_011545830.2:c.1266del XP_011544132.1:p.Arg422SerfsTer6
XM_011545833.2:c.1266del XP_011544135.1:p.Arg422SerfsTer6
XM_011545834.2:c.1140del XP_011544136.1:p.Arg380SerfsTer6
NM_000418.4:c.1563del MANE Select NP_000409.1:p.Arg521SerfsTer6
NM_001257406.2:c.1563del NP_001244335.1:p.Arg521SerfsTer6
NM_001257407.2:c.1518del NP_001244336.1:p.Arg506SerfsTer6
NM_001257997.2:c.1083del NP_001244926.1:p.Arg361SerfsTer6