Canonical Allele Identifier: CA1303149208
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282231_162282234delinsTAGA , CM000664.2:g.162282231_162282234delinsTAGA GRCh38
NC_000002.11:g.163138741_163138744delinsTAGA , CM000664.1:g.163138741_163138744delinsTAGA GRCh37
NC_000002.10:g.162846987_162846990delinsTAGA NCBI36
NG_011495.1:g.41296_41299delinsTCTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*903+132_*903+135delinsTCTA ENSP00000513228.1:n.*903+132_*903+135delinsTCTA
ENST00000648433.1:c.1306+132_1306+135delinsTCTA ENSP00000496816.1:n.1306+132_1306+135delinsTCTA
ENST00000649554.1:n.916+132_916+135delinsTCTA
ENST00000649979.2:c.1306+132_1306+135delinsTCTA MANE Select ENSP00000497271.1:n.1306+132_1306+135delinsTCTA
ENST00000679938.1:c.994+132_994+135delinsTCTA ENSP00000505518.1:n.994+132_994+135delinsTCTA
ENST00000263642.2:c.1306+132_1306+135delinsTCTA ENSP00000263642.2:n.1306+132_1306+135delinsTCTA
NM_022168.3:c.1306+132_1306+135delinsTCTA NP_071451.2:n.1306+132_1306+135delinsTCTA
XM_011511628.1:c.589+132_589+135delinsTCTA XP_011509930.1:n.589+132_589+135delinsTCTA
XM_011511629.1:c.1306+132_1306+135delinsTCTA XP_011509931.1:n.1306+132_1306+135delinsTCTA
NM_022168.4:c.1306+132_1306+135delinsTCTA MANE Select NP_071451.2:n.1306+132_1306+135delinsTCTA