Canonical Allele Identifier: CA2806368043

Gene: IL4R

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362903_27362904insG , CM000678.2:g.27362903_27362904insG	GRCh38
NC_000016.9:g.27374224_27374225insG , CM000678.1:g.27374224_27374225insG	GRCh37
NC_000016.8:g.27281725_27281726insG	NCBI36
NG_012086.1:g.53974_53975insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1551_1552insG MANE Select	ENSP00000379111.2:p.Leu518AlafsTer21
ENST00000170630.6:c.1506_1507insG	ENSP00000170630.3:p.Leu503AlafsTer21
ENST00000395762.6:c.1551_1552insG	ENSP00000379111.2:p.Leu518AlafsTer21
ENST00000543915.6:c.1551_1552insG	ENSP00000441667.2:p.Leu518AlafsTer21
ENST00000565352.1:c.230-1200_230-1199insG	ENSP00000461268.1:n.230-1200_230-1199insG
ENST00000568746.5:c.*1594_*1595insG	ENSP00000455714.1:n.*1594_*1595insG
NM_000418.3:c.1551_1552insG	NP_000409.1:p.Leu518AlafsTer21
NM_001257406.1:c.1551_1552insG	NP_001244335.1:p.Leu518AlafsTer21
NM_001257407.1:c.1506_1507insG	NP_001244336.1:p.Leu503AlafsTer21
NM_001257997.1:c.1071_1072insG	NP_001244926.1:p.Leu358AlafsTer21
XM_005255308.2:c.660_661insG	XP_005255365.1:p.Leu221AlafsTer21
XM_006721043.1:c.600_601insG	XP_006721106.1:p.Leu201AlafsTer21
XM_011545825.1:c.1551_1552insG	XP_011544127.1:p.Leu518AlafsTer21
XM_011545826.1:c.1551_1552insG	XP_011544128.1:p.Leu518AlafsTer21
XM_011545827.1:c.1551_1552insG	XP_011544129.1:p.Leu518AlafsTer21
XM_011545828.1:c.1284_1285insG	XP_011544130.1:p.Leu429AlafsTer21
XM_011545829.1:c.1254_1255insG	XP_011544131.1:p.Leu419AlafsTer21
XM_011545830.1:c.1254_1255insG	XP_011544132.1:p.Leu419AlafsTer21
XM_011545831.1:c.1254_1255insG	XP_011544133.1:p.Leu419AlafsTer21
XM_011545832.1:c.1254_1255insG	XP_011544134.1:p.Leu419AlafsTer21
XM_011545833.1:c.1254_1255insG	XP_011544135.1:p.Leu419AlafsTer21
XM_011545834.1:c.1128_1129insG	XP_011544136.1:p.Leu377AlafsTer21
XM_011545826.2:c.1551_1552insG	XP_011544128.1:p.Leu518AlafsTer21
XM_011545827.2:c.1551_1552insG	XP_011544129.1:p.Leu518AlafsTer21
XM_011545828.2:c.1284_1285insG	XP_011544130.1:p.Leu429AlafsTer21
XM_011545830.2:c.1254_1255insG	XP_011544132.1:p.Leu419AlafsTer21
XM_011545833.2:c.1254_1255insG	XP_011544135.1:p.Leu419AlafsTer21
XM_011545834.2:c.1128_1129insG	XP_011544136.1:p.Leu377AlafsTer21
NM_000418.4:c.1551_1552insG MANE Select	NP_000409.1:p.Leu518AlafsTer21
NM_001257406.2:c.1551_1552insG	NP_001244335.1:p.Leu518AlafsTer21
NM_001257407.2:c.1506_1507insG	NP_001244336.1:p.Leu503AlafsTer21
NM_001257997.2:c.1071_1072insG	NP_001244926.1:p.Leu358AlafsTer21