Canonical Allele Identifier: CA2573140592
Community Standard Title: NM_000416.3(IFNGR1):c.805del (p.Tyr269IlefsTer8)
Gene: IFNGR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137200941del , CM000668.2:g.137200941del GRCh38
NC_000006.11:g.137522078del , CM000668.1:g.137522078del GRCh37
NC_000006.10:g.137563771del NCBI36
NG_007394.1:g.23494del , LRG_66:g.23494del

Transcript Alleles

HGVS Amino-acid Change
NM_000416.3:c.805del MANE Select NP_000407.1:p.Tyr269IlefsTer8
ENST00000367739.9:c.805del MANE Select ENSP00000356713.5:p.Tyr269IlefsTer8
NM_000416.2:c.805del , LRG_66t1:c.805del NP_000407.1:p.Tyr269IlefsTer8
NM_001363526.1:c.775del NP_001350455.1:p.Tyr259IlefsTer8
NM_001363527.1:c.682del NP_001350456.1:p.Tyr228IlefsTer8
ENST00000367739.8:c.805del ENSP00000356713.4:p.Tyr269IlefsTer8
ENST00000414770.6:c.775del ENSP00000394230.2:p.Tyr259IlefsTer8
ENST00000458076.6:c.703del ENSP00000389249.2:p.Tyr235IlefsTer8
ENST00000543628.5:c.801del ENSP00000443282.2:p.Phe267LeufsTer3
ENST00000642390.1:c.748del ENSP00000496468.1:p.Tyr250IlefsTer8
ENST00000643119.1:c.925del ENSP00000495934.1:n.925del
ENST00000644894.1:c.682del ENSP00000495272.1:p.Tyr228IlefsTer8
ENST00000645045.1:c.914del
ENST00000645753.1:c.682del ENSP00000495103.1:p.Tyr228IlefsTer8
ENST00000646036.1:c.775del ENSP00000496387.1:p.Tyr259IlefsTer8
ENST00000646898.1:c.775del ENSP00000494069.1:p.Tyr259IlefsTer8
ENST00000647124.1:c.682del ENSP00000496549.1:p.Tyr228IlefsTer8
ENST00000696693.1:c.682del ENSP00000512814.1:p.Tyr228IlefsTer8
ENST00000696694.1:c.734-2298del ENSP00000512815.1:n.734-2298del
ENST00000696695.1:c.700-2298del ENSP00000512816.1:n.700-2298del
ENST00000696696.1:c.*704del ENSP00000512817.1:n.*704del
ENST00000696697.1:c.751del ENSP00000512818.1:p.Tyr251IlefsTer8
ENST00000696698.1:c.*259del ENSP00000512819.1:n.*259del
XM_006715470.2:c.775del XP_006715533.1:p.Tyr259IlefsTer8
XM_006715470.3:c.775del XP_006715533.1:p.Tyr259IlefsTer8
XM_006715471.2:c.682del XP_006715534.1:p.Tyr228IlefsTer8
XM_011535793.1:c.775del XP_011534095.1:p.Tyr259IlefsTer8
XM_011535793.2:c.775del XP_011534095.1:p.Tyr259IlefsTer8
XM_011535794.1:c.775del XP_011534096.1:p.Tyr259IlefsTer8