Canonical Allele Identifier: CA2586970159
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282434_162282435del , CM000664.2:g.162282434_162282435del GRCh38
NC_000002.11:g.163138944_163138945del , CM000664.1:g.163138944_163138945del GRCh37
NC_000002.10:g.162847190_162847191del NCBI36
NG_011495.1:g.41096_41097del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*835_*836del ENSP00000513228.1:n.*835_*836del
ENST00000648433.1:c.1238_1239del ENSP00000496816.1:p.Thr413SerfsTer5
ENST00000649554.1:n.848_849del
ENST00000649979.2:c.1238_1239del MANE Select ENSP00000497271.1:p.Thr413SerfsTer5
ENST00000679938.1:c.926_927del ENSP00000505518.1:p.Thr309SerfsTer5
ENST00000263642.2:c.1238_1239del ENSP00000263642.2:p.Thr413SerfsTer5
NM_022168.3:c.1238_1239del NP_071451.2:p.Thr413SerfsTer5
XM_011511628.1:c.521_522del XP_011509930.1:p.Thr174SerfsTer5
XM_011511629.1:c.1238_1239del XP_011509931.1:p.Thr413SerfsTer5
NM_022168.4:c.1238_1239del MANE Select NP_071451.2:p.Thr413SerfsTer5