Canonical Allele Identifier: CA2806368039

Gene: IL4R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362892_27362893dup , CM000678.2:g.27362892_27362893dup	GRCh38
NC_000016.9:g.27374213_27374214dup , CM000678.1:g.27374213_27374214dup	GRCh37
NC_000016.8:g.27281714_27281715dup	NCBI36
NG_012086.1:g.53963_53964dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1540_1541dup MANE Select	ENSP00000379111.2:p.Pro515ValfsTer13
ENST00000170630.6:c.1495_1496dup	ENSP00000170630.3:p.Pro500ValfsTer13
ENST00000395762.6:c.1540_1541dup	ENSP00000379111.2:p.Pro515ValfsTer13
ENST00000543915.6:c.1540_1541dup	ENSP00000441667.2:p.Pro515ValfsTer13
ENST00000565352.1:c.230-1211_230-1210dup	ENSP00000461268.1:n.230-1211_230-1210dup
ENST00000568746.5:c.*1583_*1584dup	ENSP00000455714.1:n.*1583_*1584dup
NM_000418.3:c.1540_1541dup	NP_000409.1:p.Pro515ValfsTer13
NM_001257406.1:c.1540_1541dup	NP_001244335.1:p.Pro515ValfsTer13
NM_001257407.1:c.1495_1496dup	NP_001244336.1:p.Pro500ValfsTer13
NM_001257997.1:c.1060_1061dup	NP_001244926.1:p.Pro355ValfsTer13
XM_005255308.2:c.649_650dup	XP_005255365.1:p.Pro218ValfsTer13
XM_006721043.1:c.589_590dup	XP_006721106.1:p.Pro198ValfsTer13
XM_011545825.1:c.1540_1541dup	XP_011544127.1:p.Pro515ValfsTer13
XM_011545826.1:c.1540_1541dup	XP_011544128.1:p.Pro515ValfsTer13
XM_011545827.1:c.1540_1541dup	XP_011544129.1:p.Pro515ValfsTer13
XM_011545828.1:c.1273_1274dup	XP_011544130.1:p.Pro426ValfsTer13
XM_011545829.1:c.1243_1244dup	XP_011544131.1:p.Pro416ValfsTer13
XM_011545830.1:c.1243_1244dup	XP_011544132.1:p.Pro416ValfsTer13
XM_011545831.1:c.1243_1244dup	XP_011544133.1:p.Pro416ValfsTer13
XM_011545832.1:c.1243_1244dup	XP_011544134.1:p.Pro416ValfsTer13
XM_011545833.1:c.1243_1244dup	XP_011544135.1:p.Pro416ValfsTer13
XM_011545834.1:c.1117_1118dup	XP_011544136.1:p.Pro374ValfsTer13
XM_011545826.2:c.1540_1541dup	XP_011544128.1:p.Pro515ValfsTer13
XM_011545827.2:c.1540_1541dup	XP_011544129.1:p.Pro515ValfsTer13
XM_011545828.2:c.1273_1274dup	XP_011544130.1:p.Pro426ValfsTer13
XM_011545830.2:c.1243_1244dup	XP_011544132.1:p.Pro416ValfsTer13
XM_011545833.2:c.1243_1244dup	XP_011544135.1:p.Pro416ValfsTer13
XM_011545834.2:c.1117_1118dup	XP_011544136.1:p.Pro374ValfsTer13
NM_000418.4:c.1540_1541dup MANE Select	NP_000409.1:p.Pro515ValfsTer13
NM_001257406.2:c.1540_1541dup	NP_001244335.1:p.Pro515ValfsTer13
NM_001257407.2:c.1495_1496dup	NP_001244336.1:p.Pro500ValfsTer13
NM_001257997.2:c.1060_1061dup	NP_001244926.1:p.Pro355ValfsTer13