Canonical Allele Identifier: CA2661688900
Gene: IFIH1 HGNC NCBI

Linked Data

gnomAD v4: 2-162281447-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162281448del , CM000664.2:g.162281448del GRCh38
NC_000002.11:g.163137958del , CM000664.1:g.163137958del GRCh37
NC_000002.10:g.162846204del NCBI36
NG_011495.1:g.42082del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*1001del ENSP00000513228.1:n.*1001del
ENST00000648433.1:c.1404del ENSP00000496816.1:p.Asn468LysfsTer11
ENST00000649554.1:n.1014del
ENST00000649979.2:c.1404del MANE Select ENSP00000497271.1:p.Asn468LysfsTer11
ENST00000679938.1:c.1092del ENSP00000505518.1:p.Asn364LysfsTer11
ENST00000263642.2:c.1404del ENSP00000263642.2:p.Asn468LysfsTer11
NM_022168.3:c.1404del NP_071451.2:p.Asn468LysfsTer11
XM_011511628.1:c.687del XP_011509930.1:p.Asn229LysfsTer11
XM_011511629.1:c.1404del XP_011509931.1:p.Asn468LysfsTer11
NM_022168.4:c.1404del MANE Select NP_071451.2:p.Asn468LysfsTer11
Search 100 bp 5'
Search 100 bp 3'