Canonical Allele Identifier: CA919683175

Gene: IL4R

Linked Data

• dbSNP Id: rs1567339115
• gnomAD v4: 16-27362761-GTCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362766_27362768del , CM000678.2:g.27362766_27362768del	GRCh38
NC_000016.9:g.27374087_27374089del , CM000678.1:g.27374087_27374089del	GRCh37
NC_000016.8:g.27281588_27281590del	NCBI36
NG_012086.1:g.53837_53839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1414_1416del MANE Select	ENSP00000379111.2:p.Pro472del
ENST00000170630.6:c.1369_1371del	ENSP00000170630.3:p.Pro457del
ENST00000395762.6:c.1414_1416del	ENSP00000379111.2:p.Pro472del
ENST00000543915.6:c.1414_1416del	ENSP00000441667.2:p.Pro472del
ENST00000565352.1:c.230-1337_230-1335del	ENSP00000461268.1:n.230-1337_230-1335del
ENST00000568746.5:c.*1457_*1459del	ENSP00000455714.1:n.*1457_*1459del
NM_000418.3:c.1414_1416del	NP_000409.1:p.Pro472del
NM_001257406.1:c.1414_1416del	NP_001244335.1:p.Pro472del
NM_001257407.1:c.1369_1371del	NP_001244336.1:p.Pro457del
NM_001257997.1:c.934_936del	NP_001244926.1:p.Pro312del
XM_005255308.2:c.523_525del	XP_005255365.1:p.Pro175del
XM_006721043.1:c.463_465del	XP_006721106.1:p.Pro155del
XM_011545825.1:c.1414_1416del	XP_011544127.1:p.Pro472del
XM_011545826.1:c.1414_1416del	XP_011544128.1:p.Pro472del
XM_011545827.1:c.1414_1416del	XP_011544129.1:p.Pro472del
XM_011545828.1:c.1147_1149del	XP_011544130.1:p.Pro383del
XM_011545829.1:c.1117_1119del	XP_011544131.1:p.Pro373del
XM_011545830.1:c.1117_1119del	XP_011544132.1:p.Pro373del
XM_011545831.1:c.1117_1119del	XP_011544133.1:p.Pro373del
XM_011545832.1:c.1117_1119del	XP_011544134.1:p.Pro373del
XM_011545833.1:c.1117_1119del	XP_011544135.1:p.Pro373del
XM_011545834.1:c.991_993del	XP_011544136.1:p.Pro331del
XM_011545826.2:c.1414_1416del	XP_011544128.1:p.Pro472del
XM_011545827.2:c.1414_1416del	XP_011544129.1:p.Pro472del
XM_011545828.2:c.1147_1149del	XP_011544130.1:p.Pro383del
XM_011545830.2:c.1117_1119del	XP_011544132.1:p.Pro373del
XM_011545833.2:c.1117_1119del	XP_011544135.1:p.Pro373del
XM_011545834.2:c.991_993del	XP_011544136.1:p.Pro331del
XM_017023211.1:c.*449_*451del	XP_016878700.1:n.*449_*451del
NM_000418.4:c.1414_1416del MANE Select	NP_000409.1:p.Pro472del
NM_001257406.2:c.1414_1416del	NP_001244335.1:p.Pro472del
NM_001257407.2:c.1369_1371del	NP_001244336.1:p.Pro457del
NM_001257997.2:c.934_936del	NP_001244926.1:p.Pro312del