Canonical Allele Identifier: CA2806368042
Gene: IL4R HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.27362900_27362901insTTCCT , CM000678.2:g.27362900_27362901insTTCCT GRCh38
NC_000016.9:g.27374221_27374222insTTCCT , CM000678.1:g.27374221_27374222insTTCCT GRCh37
NC_000016.8:g.27281722_27281723insTTCCT NCBI36
NG_012086.1:g.53971_53972insTTCCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000395762.7:c.1548_1549insTTCCT MANE Select ENSP00000379111.2:p.Pro517PhefsTer12
ENST00000170630.6:c.1503_1504insTTCCT ENSP00000170630.3:p.Pro502PhefsTer12
ENST00000395762.6:c.1548_1549insTTCCT ENSP00000379111.2:p.Pro517PhefsTer12
ENST00000543915.6:c.1548_1549insTTCCT ENSP00000441667.2:p.Pro517PhefsTer12
ENST00000565352.1:c.230-1203_230-1202insTTCCT ENSP00000461268.1:n.230-1203_230-1202insTTCCT
ENST00000568746.5:c.*1591_*1592insTTCCT ENSP00000455714.1:n.*1591_*1592insTTCCT
NM_000418.3:c.1548_1549insTTCCT NP_000409.1:p.Pro517PhefsTer12
NM_001257406.1:c.1548_1549insTTCCT NP_001244335.1:p.Pro517PhefsTer12
NM_001257407.1:c.1503_1504insTTCCT NP_001244336.1:p.Pro502PhefsTer12
NM_001257997.1:c.1068_1069insTTCCT NP_001244926.1:p.Pro357PhefsTer12
XM_005255308.2:c.657_658insTTCCT XP_005255365.1:p.Pro220PhefsTer12
XM_006721043.1:c.597_598insTTCCT XP_006721106.1:p.Pro200PhefsTer12
XM_011545825.1:c.1548_1549insTTCCT XP_011544127.1:p.Pro517PhefsTer12
XM_011545826.1:c.1548_1549insTTCCT XP_011544128.1:p.Pro517PhefsTer12
XM_011545827.1:c.1548_1549insTTCCT XP_011544129.1:p.Pro517PhefsTer12
XM_011545828.1:c.1281_1282insTTCCT XP_011544130.1:p.Pro428PhefsTer12
XM_011545829.1:c.1251_1252insTTCCT XP_011544131.1:p.Pro418PhefsTer12
XM_011545830.1:c.1251_1252insTTCCT XP_011544132.1:p.Pro418PhefsTer12
XM_011545831.1:c.1251_1252insTTCCT XP_011544133.1:p.Pro418PhefsTer12
XM_011545832.1:c.1251_1252insTTCCT XP_011544134.1:p.Pro418PhefsTer12
XM_011545833.1:c.1251_1252insTTCCT XP_011544135.1:p.Pro418PhefsTer12
XM_011545834.1:c.1125_1126insTTCCT XP_011544136.1:p.Pro376PhefsTer12
XM_011545826.2:c.1548_1549insTTCCT XP_011544128.1:p.Pro517PhefsTer12
XM_011545827.2:c.1548_1549insTTCCT XP_011544129.1:p.Pro517PhefsTer12
XM_011545828.2:c.1281_1282insTTCCT XP_011544130.1:p.Pro428PhefsTer12
XM_011545830.2:c.1251_1252insTTCCT XP_011544132.1:p.Pro418PhefsTer12
XM_011545833.2:c.1251_1252insTTCCT XP_011544135.1:p.Pro418PhefsTer12
XM_011545834.2:c.1125_1126insTTCCT XP_011544136.1:p.Pro376PhefsTer12
NM_000418.4:c.1548_1549insTTCCT MANE Select NP_000409.1:p.Pro517PhefsTer12
NM_001257406.2:c.1548_1549insTTCCT NP_001244335.1:p.Pro517PhefsTer12
NM_001257407.2:c.1503_1504insTTCCT NP_001244336.1:p.Pro502PhefsTer12
NM_001257997.2:c.1068_1069insTTCCT NP_001244926.1:p.Pro357PhefsTer12