Canonical Allele Identifier: CA1303149217
Gene: IFIH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282245_162282246delinsTA , CM000664.2:g.162282245_162282246delinsTA GRCh38
NC_000002.11:g.163138755_163138756delinsTA , CM000664.1:g.163138755_163138756delinsTA GRCh37
NC_000002.10:g.162847001_162847002delinsTA NCBI36
NG_011495.1:g.41284_41285delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*903+120_*903+121delinsTA ENSP00000513228.1:n.*903+120_*903+121delinsTA
ENST00000648433.1:c.1306+120_1306+121delinsTA ENSP00000496816.1:n.1306+120_1306+121delinsTA
ENST00000649554.1:n.916+120_916+121delinsTA
ENST00000649979.2:c.1306+120_1306+121delinsTA MANE Select ENSP00000497271.1:n.1306+120_1306+121delinsTA
ENST00000679938.1:c.994+120_994+121delinsTA ENSP00000505518.1:n.994+120_994+121delinsTA
ENST00000263642.2:c.1306+120_1306+121delinsTA ENSP00000263642.2:n.1306+120_1306+121delinsTA
NM_022168.3:c.1306+120_1306+121delinsTA NP_071451.2:n.1306+120_1306+121delinsTA
XM_011511628.1:c.589+120_589+121delinsTA XP_011509930.1:n.589+120_589+121delinsTA
XM_011511629.1:c.1306+120_1306+121delinsTA XP_011509931.1:n.1306+120_1306+121delinsTA
NM_022168.4:c.1306+120_1306+121delinsTA MANE Select NP_071451.2:n.1306+120_1306+121delinsTA