Canonical Allele Identifier: CA127603
Community Standard Title: NM_000416.3(IFNGR1):c.819_822del (p.Asn274HisfsTer2)
Gene: IFNGR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137200923_137200926del , CM000668.2:g.137200923_137200926del GRCh38
NC_000006.11:g.137522060_137522063del , CM000668.1:g.137522060_137522063del GRCh37
NC_000006.10:g.137563753_137563756del NCBI36
NG_007394.1:g.23508_23511del , LRG_66:g.23508_23511del

Transcript Alleles

HGVS Amino-acid Change
NM_000416.3:c.819_822del MANE Select NP_000407.1:p.Asn274HisfsTer2
ENST00000367739.9:c.819_822del MANE Select ENSP00000356713.5:p.Asn274HisfsTer2
NM_000416.2:c.819_822del , LRG_66t1:c.819_822del NP_000407.1:p.Asn274HisfsTer2
NM_001363526.1:c.789_792del NP_001350455.1:p.Asn264HisfsTer2
NM_001363527.1:c.696_699del NP_001350456.1:p.Asn233HisfsTer2
ENST00000367739.8:c.819_822del ENSP00000356713.4:p.Asn274HisfsTer2
ENST00000414770.6:c.789_792del ENSP00000394230.2:p.Asn264HisfsTer2
ENST00000458076.6:c.717_720del ENSP00000389249.2:p.Asn240HisfsTer2
ENST00000543628.5:c.815_818del ENSP00000443282.2:p.Leu272SerfsTer27
ENST00000642390.1:c.762_765del ENSP00000496468.1:p.Asn255HisfsTer2
ENST00000643119.1:c.939_942del ENSP00000495934.1:n.939_942del
ENST00000644894.1:c.696_699del ENSP00000495272.1:p.Asn233HisfsTer2
ENST00000645045.1:c.928_931del
ENST00000645753.1:c.696_699del ENSP00000495103.1:p.Asn233HisfsTer2
ENST00000646036.1:c.789_792del ENSP00000496387.1:p.Asn264HisfsTer2
ENST00000646898.1:c.789_792del ENSP00000494069.1:p.Asn264HisfsTer2
ENST00000647124.1:c.696_699del ENSP00000496549.1:p.Asn233HisfsTer2
ENST00000696693.1:c.696_699del ENSP00000512814.1:p.Asn233HisfsTer2
ENST00000696694.1:c.734-2284_734-2281del ENSP00000512815.1:n.734-2284_734-2281del
ENST00000696695.1:c.700-2284_700-2281del ENSP00000512816.1:n.700-2284_700-2281del
ENST00000696696.1:c.*718_*721del ENSP00000512817.1:n.*718_*721del
ENST00000696697.1:c.765_768del ENSP00000512818.1:p.Asn256HisfsTer2
ENST00000696698.1:c.*273_*276del ENSP00000512819.1:n.*273_*276del
XM_006715470.2:c.789_792del XP_006715533.1:p.Asn264HisfsTer2
XM_006715470.3:c.789_792del XP_006715533.1:p.Asn264HisfsTer2
XM_006715471.2:c.696_699del XP_006715534.1:p.Asn233HisfsTer2
XM_011535793.1:c.789_792del XP_011534095.1:p.Asn264HisfsTer2
XM_011535793.2:c.789_792del XP_011534095.1:p.Asn264HisfsTer2
XM_011535794.1:c.789_792del XP_011534096.1:p.Asn264HisfsTer2