Canonical Allele Identifier: CA2806368050
Gene: IL4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362923_27362927del , CM000678.2:g.27362923_27362927del GRCh38
NC_000016.9:g.27374244_27374248del , CM000678.1:g.27374244_27374248del GRCh37
NC_000016.8:g.27281745_27281749del NCBI36
NG_012086.1:g.53994_53998del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1571_1575del MANE Select ENSP00000379111.2:p.Glu524GlyfsTer13
ENST00000170630.6:c.1526_1530del ENSP00000170630.3:p.Glu509GlyfsTer13
ENST00000395762.6:c.1571_1575del ENSP00000379111.2:p.Glu524GlyfsTer13
ENST00000543915.6:c.1571_1575del ENSP00000441667.2:p.Glu524GlyfsTer13
ENST00000565352.1:c.230-1180_230-1176del ENSP00000461268.1:n.230-1180_230-1176del
ENST00000568746.5:c.*1614_*1618del ENSP00000455714.1:n.*1614_*1618del
NM_000418.3:c.1571_1575del NP_000409.1:p.Glu524GlyfsTer13
NM_001257406.1:c.1571_1575del NP_001244335.1:p.Glu524GlyfsTer13
NM_001257407.1:c.1526_1530del NP_001244336.1:p.Glu509GlyfsTer13
NM_001257997.1:c.1091_1095del NP_001244926.1:p.Glu364GlyfsTer13
XM_005255308.2:c.680_684del XP_005255365.1:p.Glu227GlyfsTer13
XM_006721043.1:c.620_624del XP_006721106.1:p.Glu207GlyfsTer13
XM_011545825.1:c.1571_1575del XP_011544127.1:p.Glu524GlyfsTer13
XM_011545826.1:c.1571_1575del XP_011544128.1:p.Glu524GlyfsTer13
XM_011545827.1:c.1571_1575del XP_011544129.1:p.Glu524GlyfsTer13
XM_011545828.1:c.1304_1308del XP_011544130.1:p.Glu435GlyfsTer13
XM_011545829.1:c.1274_1278del XP_011544131.1:p.Glu425GlyfsTer13
XM_011545830.1:c.1274_1278del XP_011544132.1:p.Glu425GlyfsTer13
XM_011545831.1:c.1274_1278del XP_011544133.1:p.Glu425GlyfsTer13
XM_011545832.1:c.1274_1278del XP_011544134.1:p.Glu425GlyfsTer13
XM_011545833.1:c.1274_1278del XP_011544135.1:p.Glu425GlyfsTer13
XM_011545834.1:c.1148_1152del XP_011544136.1:p.Glu383GlyfsTer13
XM_011545826.2:c.1571_1575del XP_011544128.1:p.Glu524GlyfsTer13
XM_011545827.2:c.1571_1575del XP_011544129.1:p.Glu524GlyfsTer13
XM_011545828.2:c.1304_1308del XP_011544130.1:p.Glu435GlyfsTer13
XM_011545830.2:c.1274_1278del XP_011544132.1:p.Glu425GlyfsTer13
XM_011545833.2:c.1274_1278del XP_011544135.1:p.Glu425GlyfsTer13
XM_011545834.2:c.1148_1152del XP_011544136.1:p.Glu383GlyfsTer13
NM_000418.4:c.1571_1575del MANE Select NP_000409.1:p.Glu524GlyfsTer13
NM_001257406.2:c.1571_1575del NP_001244335.1:p.Glu524GlyfsTer13
NM_001257407.2:c.1526_1530del NP_001244336.1:p.Glu509GlyfsTer13
NM_001257997.2:c.1091_1095del NP_001244926.1:p.Glu364GlyfsTer13