Canonical Allele Identifier: CA2632431260

Gene: IL4R

Linked Data

• gnomAD v4: 16-27362858-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362859del , CM000678.2:g.27362859del	GRCh38
NC_000016.9:g.27374180del , CM000678.1:g.27374180del	GRCh37
NC_000016.8:g.27281681del	NCBI36
NG_012086.1:g.53930del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1507del MANE Select	ENSP00000379111.2:p.Ser503ProfsTer2
ENST00000170630.6:c.1462del	ENSP00000170630.3:p.Ser488ProfsTer2
ENST00000395762.6:c.1507del	ENSP00000379111.2:p.Ser503ProfsTer2
ENST00000543915.6:c.1507del	ENSP00000441667.2:p.Ser503ProfsTer2
ENST00000565352.1:c.230-1244del	ENSP00000461268.1:n.230-1244del
ENST00000568746.5:c.*1550del	ENSP00000455714.1:n.*1550del
NM_000418.3:c.1507del	NP_000409.1:p.Ser503ProfsTer2
NM_001257406.1:c.1507del	NP_001244335.1:p.Ser503ProfsTer2
NM_001257407.1:c.1462del	NP_001244336.1:p.Ser488ProfsTer2
NM_001257997.1:c.1027del	NP_001244926.1:p.Ser343ProfsTer2
XM_005255308.2:c.616del	XP_005255365.1:p.Ser206ProfsTer2
XM_006721043.1:c.556del	XP_006721106.1:p.Ser186ProfsTer2
XM_011545825.1:c.1507del	XP_011544127.1:p.Ser503ProfsTer2
XM_011545826.1:c.1507del	XP_011544128.1:p.Ser503ProfsTer2
XM_011545827.1:c.1507del	XP_011544129.1:p.Ser503ProfsTer2
XM_011545828.1:c.1240del	XP_011544130.1:p.Ser414ProfsTer2
XM_011545829.1:c.1210del	XP_011544131.1:p.Ser404ProfsTer2
XM_011545830.1:c.1210del	XP_011544132.1:p.Ser404ProfsTer2
XM_011545831.1:c.1210del	XP_011544133.1:p.Ser404ProfsTer2
XM_011545832.1:c.1210del	XP_011544134.1:p.Ser404ProfsTer2
XM_011545833.1:c.1210del	XP_011544135.1:p.Ser404ProfsTer2
XM_011545834.1:c.1084del	XP_011544136.1:p.Ser362ProfsTer2
XM_011545826.2:c.1507del	XP_011544128.1:p.Ser503ProfsTer2
XM_011545827.2:c.1507del	XP_011544129.1:p.Ser503ProfsTer2
XM_011545828.2:c.1240del	XP_011544130.1:p.Ser414ProfsTer2
XM_011545830.2:c.1210del	XP_011544132.1:p.Ser404ProfsTer2
XM_011545833.2:c.1210del	XP_011544135.1:p.Ser404ProfsTer2
XM_011545834.2:c.1084del	XP_011544136.1:p.Ser362ProfsTer2
NM_000418.4:c.1507del MANE Select	NP_000409.1:p.Ser503ProfsTer2
NM_001257406.2:c.1507del	NP_001244335.1:p.Ser503ProfsTer2
NM_001257407.2:c.1462del	NP_001244336.1:p.Ser488ProfsTer2
NM_001257997.2:c.1027del	NP_001244926.1:p.Ser343ProfsTer2