Canonical Allele Identifier: CA1303149234
Gene: IFIH1 HGNC NCBI

Linked Data

dbSNP Id: rs1682823127

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282275_162282289del , CM000664.2:g.162282275_162282289del GRCh38
NC_000002.11:g.163138785_163138799del , CM000664.1:g.163138785_163138799del GRCh37
NC_000002.10:g.162847031_162847045del NCBI36
NG_011495.1:g.41247_41261del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*903+83_*903+97del ENSP00000513228.1:n.*903+83_*903+97del
ENST00000648433.1:c.1306+83_1306+97del ENSP00000496816.1:n.1306+83_1306+97del
ENST00000649554.1:n.916+83_916+97del
ENST00000649979.2:c.1306+83_1306+97del MANE Select ENSP00000497271.1:n.1306+83_1306+97del
ENST00000679938.1:c.994+83_994+97del ENSP00000505518.1:n.994+83_994+97del
ENST00000263642.2:c.1306+83_1306+97del ENSP00000263642.2:n.1306+83_1306+97del
NM_022168.3:c.1306+83_1306+97del NP_071451.2:n.1306+83_1306+97del
XM_011511628.1:c.589+83_589+97del XP_011509930.1:n.589+83_589+97del
XM_011511629.1:c.1306+83_1306+97del XP_011509931.1:n.1306+83_1306+97del
NM_022168.4:c.1306+83_1306+97del MANE Select NP_071451.2:n.1306+83_1306+97del