Canonical Allele Identifier: CA919683181
Gene: IL4R HGNC NCBI

Linked Data

dbSNP Id: rs1555491211

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362827del , CM000678.2:g.27362827del GRCh38
NC_000016.9:g.27374148del , CM000678.1:g.27374148del GRCh37
NC_000016.8:g.27281649del NCBI36
NG_012086.1:g.53898del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1475del MANE Select ENSP00000379111.2:p.Ala492GlufsTer13
ENST00000170630.6:c.1430del ENSP00000170630.3:p.Ala477GlufsTer13
ENST00000395762.6:c.1475del ENSP00000379111.2:p.Ala492GlufsTer13
ENST00000543915.6:c.1475del ENSP00000441667.2:p.Ala492GlufsTer13
ENST00000565352.1:c.230-1276del ENSP00000461268.1:n.230-1276del
ENST00000568746.5:c.*1518del ENSP00000455714.1:n.*1518del
NM_000418.3:c.1475del NP_000409.1:p.Ala492GlufsTer13
NM_001257406.1:c.1475del NP_001244335.1:p.Ala492GlufsTer13
NM_001257407.1:c.1430del NP_001244336.1:p.Ala477GlufsTer13
NM_001257997.1:c.995del NP_001244926.1:p.Ala332GlufsTer13
XM_005255308.2:c.584del XP_005255365.1:p.Ala195GlufsTer13
XM_006721043.1:c.524del XP_006721106.1:p.Ala175GlufsTer13
XM_011545825.1:c.1475del XP_011544127.1:p.Ala492GlufsTer13
XM_011545826.1:c.1475del XP_011544128.1:p.Ala492GlufsTer13
XM_011545827.1:c.1475del XP_011544129.1:p.Ala492GlufsTer13
XM_011545828.1:c.1208del XP_011544130.1:p.Ala403GlufsTer13
XM_011545829.1:c.1178del XP_011544131.1:p.Ala393GlufsTer13
XM_011545830.1:c.1178del XP_011544132.1:p.Ala393GlufsTer13
XM_011545831.1:c.1178del XP_011544133.1:p.Ala393GlufsTer13
XM_011545832.1:c.1178del XP_011544134.1:p.Ala393GlufsTer13
XM_011545833.1:c.1178del XP_011544135.1:p.Ala393GlufsTer13
XM_011545834.1:c.1052del XP_011544136.1:p.Ala351GlufsTer13
XM_011545826.2:c.1475del XP_011544128.1:p.Ala492GlufsTer13
XM_011545827.2:c.1475del XP_011544129.1:p.Ala492GlufsTer13
XM_011545828.2:c.1208del XP_011544130.1:p.Ala403GlufsTer13
XM_011545830.2:c.1178del XP_011544132.1:p.Ala393GlufsTer13
XM_011545833.2:c.1178del XP_011544135.1:p.Ala393GlufsTer13
XM_011545834.2:c.1052del XP_011544136.1:p.Ala351GlufsTer13
XM_017023211.1:c.*510del XP_016878700.1:n.*510del
NM_000418.4:c.1475del MANE Select NP_000409.1:p.Ala492GlufsTer13
NM_001257406.2:c.1475del NP_001244335.1:p.Ala492GlufsTer13
NM_001257407.2:c.1430del NP_001244336.1:p.Ala477GlufsTer13
NM_001257997.2:c.995del NP_001244926.1:p.Ala332GlufsTer13