Canonical Allele Identifier: CA127604
Community Standard Title: NM_000416.3(IFNGR1):c.295_306del (p.Trp99_Val102del)
Gene: IFNGR1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.137206205_137206216del , CM000668.2:g.137206205_137206216del GRCh38
NC_000006.11:g.137527342_137527353del , CM000668.1:g.137527342_137527353del GRCh37
NC_000006.10:g.137569035_137569046del NCBI36
NG_007394.1:g.18217_18228del , LRG_66:g.18217_18228del

Transcript Alleles

HGVS Amino-acid Change
NM_000416.3:c.295_306del MANE Select NP_000407.1:p.Trp99_Val102del
ENST00000367739.9:c.295_306del MANE Select ENSP00000356713.5:p.Trp99_Val102del
NM_000416.2:c.295_306del , LRG_66t1:c.295_306del NP_000407.1:p.Trp99_Val102del
NM_001363526.1:c.265_276del NP_001350455.1:p.Trp89_Val92del
NM_001363527.1:c.172_183del NP_001350456.1:p.Trp58_Val61del
ENST00000367739.8:c.295_306del ENSP00000356713.4:p.Trp99_Val102del
ENST00000414770.5:c.265_276del ENSP00000394230.1:p.Trp89_Val92del
ENST00000414770.6:c.265_276del ENSP00000394230.2:p.Trp89_Val92del
ENST00000458076.5:c.201-8_204del
ENST00000458076.6:c.201-8_204del
ENST00000543628.5:c.295_306del ENSP00000443282.2:p.Trp99_Val102del
ENST00000642390.1:c.238_249del ENSP00000496468.1:p.Trp80_Val83del
ENST00000643119.1:c.415_426del ENSP00000495934.1:n.415_426del
ENST00000644894.1:c.172_183del ENSP00000495272.1:p.Trp58_Val61del
ENST00000645045.1:c.404_415del
ENST00000645753.1:c.172_183del ENSP00000495103.1:p.Trp58_Val61del
ENST00000646036.1:c.265_276del ENSP00000496387.1:p.Trp89_Val92del
ENST00000646898.1:c.265_276del ENSP00000494069.1:p.Trp89_Val92del
ENST00000647124.1:c.172_183del ENSP00000496549.1:p.Trp58_Val61del
ENST00000696693.1:c.172_183del ENSP00000512814.1:p.Trp58_Val61del
ENST00000696694.1:c.295_306del ENSP00000512815.1:p.Trp99_Val102del
ENST00000696695.1:c.295_306del ENSP00000512816.1:p.Trp99_Val102del
ENST00000696696.1:c.*194_*205del ENSP00000512817.1:n.*194_*205del
ENST00000696697.1:c.241_252del ENSP00000512818.1:p.Trp81_Val84del
ENST00000696698.1:c.295_306del ENSP00000512819.1:p.Trp99_Val102del
ENST00000696699.1:c.211_222del ENSP00000512820.1:p.Trp71_Val74del
XM_006715470.2:c.265_276del XP_006715533.1:p.Trp89_Val92del
XM_006715470.3:c.265_276del XP_006715533.1:p.Trp89_Val92del
XM_006715471.2:c.172_183del XP_006715534.1:p.Trp58_Val61del
XM_011535793.1:c.265_276del XP_011534095.1:p.Trp89_Val92del
XM_011535793.2:c.265_276del XP_011534095.1:p.Trp89_Val92del
XM_011535794.1:c.265_276del XP_011534096.1:p.Trp89_Val92del