Canonical Allele Identifier: CA2752938483

Gene: IFIH1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162282470_162282471insAA , CM000664.2:g.162282470_162282471insAA	GRCh38
NC_000002.11:g.163138980_163138981insAA , CM000664.1:g.163138980_163138981insAA	GRCh37
NC_000002.10:g.162847226_162847227insAA	NCBI36
NG_011495.1:g.41059_41060insTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*798_*799insTT	ENSP00000513228.1:n.*798_*799insTT
ENST00000648433.1:c.1201_1202insTT	ENSP00000496816.1:p.Pro401LeufsTer23
ENST00000649554.1:n.811_812insTT
ENST00000649979.2:c.1201_1202insTT MANE Select	ENSP00000497271.1:p.Pro401LeufsTer23
ENST00000679938.1:c.889_890insTT	ENSP00000505518.1:p.Pro297LeufsTer23
ENST00000263642.2:c.1201_1202insTT	ENSP00000263642.2:p.Pro401LeufsTer23
NM_022168.3:c.1201_1202insTT	NP_071451.2:p.Pro401LeufsTer23
XM_011511628.1:c.484_485insTT	XP_011509930.1:p.Pro162LeufsTer23
XM_011511629.1:c.1201_1202insTT	XP_011509931.1:p.Pro401LeufsTer23
NM_022168.4:c.1201_1202insTT MANE Select	NP_071451.2:p.Pro401LeufsTer23