Canonical Allele Identifier: CA919683179

Gene: IL4R

Linked Data

• dbSNP Id: rs1555491204

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362826_27362827delinsA , CM000678.2:g.27362826_27362827delinsA	GRCh38
NC_000016.9:g.27374147_27374148delinsA , CM000678.1:g.27374147_27374148delinsA	GRCh37
NC_000016.8:g.27281648_27281649delinsA	NCBI36
NG_012086.1:g.53897_53898delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1474_1475delinsA MANE Select	ENSP00000379111.2:p.Ala492LysfsTer13
ENST00000170630.6:c.1429_1430delinsA	ENSP00000170630.3:p.Ala477LysfsTer13
ENST00000395762.6:c.1474_1475delinsA	ENSP00000379111.2:p.Ala492LysfsTer13
ENST00000543915.6:c.1474_1475delinsA	ENSP00000441667.2:p.Ala492LysfsTer13
ENST00000565352.1:c.230-1277_230-1276delinsA	ENSP00000461268.1:n.230-1277_230-1276delinsA
ENST00000568746.5:c.*1517_*1518delinsA	ENSP00000455714.1:n.*1517_*1518delinsA
NM_000418.3:c.1474_1475delinsA	NP_000409.1:p.Ala492LysfsTer13
NM_001257406.1:c.1474_1475delinsA	NP_001244335.1:p.Ala492LysfsTer13
NM_001257407.1:c.1429_1430delinsA	NP_001244336.1:p.Ala477LysfsTer13
NM_001257997.1:c.994_995delinsA	NP_001244926.1:p.Ala332LysfsTer13
XM_005255308.2:c.583_584delinsA	XP_005255365.1:p.Ala195LysfsTer13
XM_006721043.1:c.523_524delinsA	XP_006721106.1:p.Ala175LysfsTer13
XM_011545825.1:c.1474_1475delinsA	XP_011544127.1:p.Ala492LysfsTer13
XM_011545826.1:c.1474_1475delinsA	XP_011544128.1:p.Ala492LysfsTer13
XM_011545827.1:c.1474_1475delinsA	XP_011544129.1:p.Ala492LysfsTer13
XM_011545828.1:c.1207_1208delinsA	XP_011544130.1:p.Ala403LysfsTer13
XM_011545829.1:c.1177_1178delinsA	XP_011544131.1:p.Ala393LysfsTer13
XM_011545830.1:c.1177_1178delinsA	XP_011544132.1:p.Ala393LysfsTer13
XM_011545831.1:c.1177_1178delinsA	XP_011544133.1:p.Ala393LysfsTer13
XM_011545832.1:c.1177_1178delinsA	XP_011544134.1:p.Ala393LysfsTer13
XM_011545833.1:c.1177_1178delinsA	XP_011544135.1:p.Ala393LysfsTer13
XM_011545834.1:c.1051_1052delinsA	XP_011544136.1:p.Ala351LysfsTer13
XM_011545826.2:c.1474_1475delinsA	XP_011544128.1:p.Ala492LysfsTer13
XM_011545827.2:c.1474_1475delinsA	XP_011544129.1:p.Ala492LysfsTer13
XM_011545828.2:c.1207_1208delinsA	XP_011544130.1:p.Ala403LysfsTer13
XM_011545830.2:c.1177_1178delinsA	XP_011544132.1:p.Ala393LysfsTer13
XM_011545833.2:c.1177_1178delinsA	XP_011544135.1:p.Ala393LysfsTer13
XM_011545834.2:c.1051_1052delinsA	XP_011544136.1:p.Ala351LysfsTer13
XM_017023211.1:c.*509_*510delinsA	XP_016878700.1:n.*509_*510delinsA
NM_000418.4:c.1474_1475delinsA MANE Select	NP_000409.1:p.Ala492LysfsTer13
NM_001257406.2:c.1474_1475delinsA	NP_001244335.1:p.Ala492LysfsTer13
NM_001257407.2:c.1429_1430delinsA	NP_001244336.1:p.Ala477LysfsTer13
NM_001257997.2:c.994_995delinsA	NP_001244926.1:p.Ala332LysfsTer13