Canonical Allele Identifier: CA2806368044

Gene: IL4R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362906_27362907insT , CM000678.2:g.27362906_27362907insT	GRCh38
NC_000016.9:g.27374227_27374228insT , CM000678.1:g.27374227_27374228insT	GRCh37
NC_000016.8:g.27281728_27281729insT	NCBI36
NG_012086.1:g.53977_53978insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1554_1555insT MANE Select	ENSP00000379111.2:p.Leu519SerfsTer20
ENST00000170630.6:c.1509_1510insT	ENSP00000170630.3:p.Leu504SerfsTer20
ENST00000395762.6:c.1554_1555insT	ENSP00000379111.2:p.Leu519SerfsTer20
ENST00000543915.6:c.1554_1555insT	ENSP00000441667.2:p.Leu519SerfsTer20
ENST00000565352.1:c.230-1197_230-1196insT	ENSP00000461268.1:n.230-1197_230-1196insT
ENST00000568746.5:c.*1597_*1598insT	ENSP00000455714.1:n.*1597_*1598insT
NM_000418.3:c.1554_1555insT	NP_000409.1:p.Leu519SerfsTer20
NM_001257406.1:c.1554_1555insT	NP_001244335.1:p.Leu519SerfsTer20
NM_001257407.1:c.1509_1510insT	NP_001244336.1:p.Leu504SerfsTer20
NM_001257997.1:c.1074_1075insT	NP_001244926.1:p.Leu359SerfsTer20
XM_005255308.2:c.663_664insT	XP_005255365.1:p.Leu222SerfsTer20
XM_006721043.1:c.603_604insT	XP_006721106.1:p.Leu202SerfsTer20
XM_011545825.1:c.1554_1555insT	XP_011544127.1:p.Leu519SerfsTer20
XM_011545826.1:c.1554_1555insT	XP_011544128.1:p.Leu519SerfsTer20
XM_011545827.1:c.1554_1555insT	XP_011544129.1:p.Leu519SerfsTer20
XM_011545828.1:c.1287_1288insT	XP_011544130.1:p.Leu430SerfsTer20
XM_011545829.1:c.1257_1258insT	XP_011544131.1:p.Leu420SerfsTer20
XM_011545830.1:c.1257_1258insT	XP_011544132.1:p.Leu420SerfsTer20
XM_011545831.1:c.1257_1258insT	XP_011544133.1:p.Leu420SerfsTer20
XM_011545832.1:c.1257_1258insT	XP_011544134.1:p.Leu420SerfsTer20
XM_011545833.1:c.1257_1258insT	XP_011544135.1:p.Leu420SerfsTer20
XM_011545834.1:c.1131_1132insT	XP_011544136.1:p.Leu378SerfsTer20
XM_011545826.2:c.1554_1555insT	XP_011544128.1:p.Leu519SerfsTer20
XM_011545827.2:c.1554_1555insT	XP_011544129.1:p.Leu519SerfsTer20
XM_011545828.2:c.1287_1288insT	XP_011544130.1:p.Leu430SerfsTer20
XM_011545830.2:c.1257_1258insT	XP_011544132.1:p.Leu420SerfsTer20
XM_011545833.2:c.1257_1258insT	XP_011544135.1:p.Leu420SerfsTer20
XM_011545834.2:c.1131_1132insT	XP_011544136.1:p.Leu378SerfsTer20
NM_000418.4:c.1554_1555insT MANE Select	NP_000409.1:p.Leu519SerfsTer20
NM_001257406.2:c.1554_1555insT	NP_001244335.1:p.Leu519SerfsTer20
NM_001257407.2:c.1509_1510insT	NP_001244336.1:p.Leu504SerfsTer20
NM_001257997.2:c.1074_1075insT	NP_001244926.1:p.Leu359SerfsTer20