Canonical Allele Identifier: CA2680500572

Gene: IFNGR1

Linked Data

• gnomAD v4: 6-137206982-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.137206984del , CM000668.2:g.137206984del	GRCh38
NC_000006.11:g.137528121del , CM000668.1:g.137528121del	GRCh37
NC_000006.10:g.137569814del	NCBI36
NG_007394.1:g.17448del , LRG_66:g.17448del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000414770.6:c.150del	ENSP00000394230.2:p.Val51Ter
ENST00000458076.6:c.180del	ENSP00000389249.2:p.Val61Ter
ENST00000696693.1:c.57del	ENSP00000512814.1:p.Val20Ter
ENST00000696694.1:c.180del	ENSP00000512815.1:p.Val61Ter
ENST00000696695.1:c.180del	ENSP00000512816.1:p.Val61Ter
ENST00000696696.1:c.*79del	ENSP00000512817.1:n.*79del
ENST00000696697.1:c.126del	ENSP00000512818.1:p.Val43Ter
ENST00000696698.1:c.180del	ENSP00000512819.1:p.Val61Ter
ENST00000696699.1:c.96del	ENSP00000512820.1:p.Val33Ter
ENST00000367739.9:c.180del MANE Select	ENSP00000356713.5:p.Val61Ter
ENST00000642390.1:c.123del	ENSP00000496468.1:p.Val42Ter
ENST00000643119.1:c.300del	ENSP00000495934.1:n.300del
ENST00000644894.1:c.57del	ENSP00000495272.1:p.Val20Ter
ENST00000645045.1:c.289del
ENST00000645753.1:c.57del	ENSP00000495103.1:p.Val20Ter
ENST00000646036.1:c.150del	ENSP00000496387.1:p.Val51Ter
ENST00000646898.1:c.150del	ENSP00000494069.1:p.Val51Ter
ENST00000647124.1:c.57del	ENSP00000496549.1:p.Val20Ter
ENST00000367739.8:c.180del	ENSP00000356713.4:p.Val61Ter
ENST00000414770.5:c.150del	ENSP00000394230.1:p.Val51Ter
ENST00000458076.5:c.180del	ENSP00000389249.1:p.Val61Ter
ENST00000478333.1:n.302del
ENST00000543628.5:c.180del	ENSP00000443282.2:p.Val61Ter
NM_000416.2:c.180del , LRG_66t1:c.180del	NP_000407.1:p.Val61Ter
XM_006715470.2:c.150del	XP_006715533.1:p.Val51Ter
XM_006715471.2:c.57del	XP_006715534.1:p.Val20Ter
XM_011535793.1:c.150del	XP_011534095.1:p.Val51Ter
XM_011535794.1:c.150del	XP_011534096.1:p.Val51Ter
NM_001363526.1:c.150del	NP_001350455.1:p.Val51Ter
NM_001363527.1:c.57del	NP_001350456.1:p.Val20Ter
XM_006715470.3:c.150del	XP_006715533.1:p.Val51Ter
XM_011535793.2:c.150del	XP_011534095.1:p.Val51Ter
NM_000416.3:c.180del MANE Select	NP_000407.1:p.Val61Ter