Canonical Allele Identifier: CA127598
Community Standard Title: NM_000416.3(IFNGR1):c.131del (p.Pro44LeufsTer18)
Gene: IFNGR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137207034del , CM000668.2:g.137207034del GRCh38
NC_000006.11:g.137528171del , CM000668.1:g.137528171del GRCh37
NC_000006.10:g.137569864del NCBI36
NG_007394.1:g.17399del , LRG_66:g.17399del

Transcript Alleles

HGVS Amino-acid Change
NM_000416.3:c.131del MANE Select NP_000407.1:p.Pro44LeufsTer18
ENST00000367739.9:c.131del MANE Select ENSP00000356713.5:p.Pro44LeufsTer18
NM_000416.2:c.131del , LRG_66t1:c.131del NP_000407.1:p.Pro44LeufsTer18
NM_001363526.1:c.101del NP_001350455.1:p.Pro34LeufsTer18
NM_001363527.1:c.8del NP_001350456.1:p.Pro3LeufsTer18
ENST00000367739.8:c.131del ENSP00000356713.4:p.Pro44LeufsTer18
ENST00000414770.5:c.101del ENSP00000394230.1:p.Pro34LeufsTer18
ENST00000414770.6:c.101del ENSP00000394230.2:p.Pro34LeufsTer18
ENST00000458076.5:c.131del ENSP00000389249.1:p.Pro44LeufsTer18
ENST00000458076.6:c.131del ENSP00000389249.2:p.Pro44LeufsTer18
ENST00000478333.1:n.253del
ENST00000543628.5:c.131del ENSP00000443282.2:p.Pro44LeufsTer18
ENST00000642390.1:c.74del ENSP00000496468.1:p.Pro25LeufsTer18
ENST00000643119.1:c.251del ENSP00000495934.1:n.251del
ENST00000644894.1:c.8del ENSP00000495272.1:p.Pro3LeufsTer18
ENST00000645045.1:c.240del
ENST00000645753.1:c.8del ENSP00000495103.1:p.Pro3LeufsTer18
ENST00000646036.1:c.101del ENSP00000496387.1:p.Pro34LeufsTer18
ENST00000646898.1:c.101del ENSP00000494069.1:p.Pro34LeufsTer18
ENST00000647124.1:c.8del ENSP00000496549.1:p.Pro3LeufsTer18
ENST00000696693.1:c.8del ENSP00000512814.1:p.Pro3LeufsTer18
ENST00000696694.1:c.131del ENSP00000512815.1:p.Pro44LeufsTer18
ENST00000696695.1:c.131del ENSP00000512816.1:p.Pro44LeufsTer18
ENST00000696696.1:c.*30del ENSP00000512817.1:n.*30del
ENST00000696697.1:c.77del ENSP00000512818.1:p.Pro26LeufsTer18
ENST00000696698.1:c.131del ENSP00000512819.1:p.Pro44LeufsTer18
ENST00000696699.1:c.47del ENSP00000512820.1:p.Pro16LeufsTer18
XM_006715470.2:c.101del XP_006715533.1:p.Pro34LeufsTer18
XM_006715470.3:c.101del XP_006715533.1:p.Pro34LeufsTer18
XM_006715471.2:c.8del XP_006715534.1:p.Pro3LeufsTer18
XM_011535793.1:c.101del XP_011534095.1:p.Pro34LeufsTer18
XM_011535793.2:c.101del XP_011534095.1:p.Pro34LeufsTer18
XM_011535794.1:c.101del XP_011534096.1:p.Pro34LeufsTer18