Canonical Allele Identifier: CA719577366

Gene: IL4R

Linked Data

• dbSNP Id: rs1237619386
• gnomAD v3: 16-27362894-TCCAGACCCACTGCTGG-T
• gnomAD v4: 16-27362894-TCCAGACCCACTGCTGG-T
• MyVariant Identifiers: chr16:g.27374216_27374231del (hg19) ; chr16:g.27362895_27362910del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.27362901_27362916del , CM000678.2:g.27362901_27362916del	GRCh38
NC_000016.9:g.27374222_27374237del , CM000678.1:g.27374222_27374237del	GRCh37
NC_000016.8:g.27281723_27281738del	NCBI36
NG_012086.1:g.53972_53987del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395762.7:c.1549_1564del MANE Select	ENSP00000379111.2:p.Pro517ThrfsTer5
ENST00000170630.6:c.1504_1519del	ENSP00000170630.3:p.Pro502ThrfsTer5
ENST00000395762.6:c.1549_1564del	ENSP00000379111.2:p.Pro517ThrfsTer5
ENST00000543915.6:c.1549_1564del	ENSP00000441667.2:p.Pro517ThrfsTer5
ENST00000565352.1:c.230-1202_230-1187del	ENSP00000461268.1:n.230-1202_230-1187del
ENST00000568746.5:c.*1592_*1607del	ENSP00000455714.1:n.*1592_*1607del
NM_000418.3:c.1549_1564del	NP_000409.1:p.Pro517ThrfsTer5
NM_001257406.1:c.1549_1564del	NP_001244335.1:p.Pro517ThrfsTer5
NM_001257407.1:c.1504_1519del	NP_001244336.1:p.Pro502ThrfsTer5
NM_001257997.1:c.1069_1084del	NP_001244926.1:p.Pro357ThrfsTer5
XM_005255308.2:c.658_673del	XP_005255365.1:p.Pro220ThrfsTer5
XM_006721043.1:c.598_613del	XP_006721106.1:p.Pro200ThrfsTer5
XM_011545825.1:c.1549_1564del	XP_011544127.1:p.Pro517ThrfsTer5
XM_011545826.1:c.1549_1564del	XP_011544128.1:p.Pro517ThrfsTer5
XM_011545827.1:c.1549_1564del	XP_011544129.1:p.Pro517ThrfsTer5
XM_011545828.1:c.1282_1297del	XP_011544130.1:p.Pro428ThrfsTer5
XM_011545829.1:c.1252_1267del	XP_011544131.1:p.Pro418ThrfsTer5
XM_011545830.1:c.1252_1267del	XP_011544132.1:p.Pro418ThrfsTer5
XM_011545831.1:c.1252_1267del	XP_011544133.1:p.Pro418ThrfsTer5
XM_011545832.1:c.1252_1267del	XP_011544134.1:p.Pro418ThrfsTer5
XM_011545833.1:c.1252_1267del	XP_011544135.1:p.Pro418ThrfsTer5
XM_011545834.1:c.1126_1141del	XP_011544136.1:p.Pro376ThrfsTer5
XM_011545826.2:c.1549_1564del	XP_011544128.1:p.Pro517ThrfsTer5
XM_011545827.2:c.1549_1564del	XP_011544129.1:p.Pro517ThrfsTer5
XM_011545828.2:c.1282_1297del	XP_011544130.1:p.Pro428ThrfsTer5
XM_011545830.2:c.1252_1267del	XP_011544132.1:p.Pro418ThrfsTer5
XM_011545833.2:c.1252_1267del	XP_011544135.1:p.Pro418ThrfsTer5
XM_011545834.2:c.1126_1141del	XP_011544136.1:p.Pro376ThrfsTer5
NM_000418.4:c.1549_1564del MANE Select	NP_000409.1:p.Pro517ThrfsTer5
NM_001257406.2:c.1549_1564del	NP_001244335.1:p.Pro517ThrfsTer5
NM_001257407.2:c.1504_1519del	NP_001244336.1:p.Pro502ThrfsTer5
NM_001257997.2:c.1069_1084del	NP_001244926.1:p.Pro357ThrfsTer5