Canonical Allele Identifier: CA2839157482
Gene: IL4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362513dup , CM000678.2:g.27362513dup GRCh38
NC_000016.9:g.27373834dup , CM000678.1:g.27373834dup GRCh37
NC_000016.8:g.27281335dup NCBI36
NG_012086.1:g.53584dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1161dup MANE Select ENSP00000379111.2:p.Pro388AlafsTer2
ENST00000170630.6:c.1116dup ENSP00000170630.3:p.Pro373AlafsTer2
ENST00000395762.6:c.1161dup ENSP00000379111.2:p.Pro388AlafsTer2
ENST00000543915.6:c.1161dup ENSP00000441667.2:p.Pro388AlafsTer2
ENST00000565352.1:c.230-1590dup ENSP00000461268.1:n.230-1590dup
ENST00000568746.5:c.*1204dup ENSP00000455714.1:n.*1204dup
NM_000418.3:c.1161dup NP_000409.1:p.Pro388AlafsTer2
NM_001257406.1:c.1161dup NP_001244335.1:p.Pro388AlafsTer2
NM_001257407.1:c.1116dup NP_001244336.1:p.Pro373AlafsTer2
NM_001257997.1:c.681dup NP_001244926.1:p.Pro228AlafsTer2
XM_005255308.2:c.270dup XP_005255365.1:p.Pro91AlafsTer2
XM_006721043.1:c.210dup XP_006721106.1:p.Pro71AlafsTer2
XM_011545825.1:c.1161dup XP_011544127.1:p.Pro388AlafsTer2
XM_011545826.1:c.1161dup XP_011544128.1:p.Pro388AlafsTer2
XM_011545827.1:c.1161dup XP_011544129.1:p.Pro388AlafsTer2
XM_011545828.1:c.894dup XP_011544130.1:p.Pro299AlafsTer2
XM_011545829.1:c.864dup XP_011544131.1:p.Pro289AlafsTer2
XM_011545830.1:c.864dup XP_011544132.1:p.Pro289AlafsTer2
XM_011545831.1:c.864dup XP_011544133.1:p.Pro289AlafsTer2
XM_011545832.1:c.864dup XP_011544134.1:p.Pro289AlafsTer2
XM_011545833.1:c.864dup XP_011544135.1:p.Pro289AlafsTer2
XM_011545834.1:c.738dup XP_011544136.1:p.Pro247AlafsTer2
XM_011545826.2:c.1161dup XP_011544128.1:p.Pro388AlafsTer2
XM_011545827.2:c.1161dup XP_011544129.1:p.Pro388AlafsTer2
XM_011545828.2:c.894dup XP_011544130.1:p.Pro299AlafsTer2
XM_011545830.2:c.864dup XP_011544132.1:p.Pro289AlafsTer2
XM_011545833.2:c.864dup XP_011544135.1:p.Pro289AlafsTer2
XM_011545834.2:c.738dup XP_011544136.1:p.Pro247AlafsTer2
XM_017023211.1:c.*196dup XP_016878700.1:n.*196dup
NM_000418.4:c.1161dup MANE Select NP_000409.1:p.Pro388AlafsTer2
NM_001257406.2:c.1161dup NP_001244335.1:p.Pro388AlafsTer2
NM_001257407.2:c.1116dup NP_001244336.1:p.Pro373AlafsTer2
NM_001257997.2:c.681dup NP_001244926.1:p.Pro228AlafsTer2