Canonical Allele Identifier: CA1303149209
Gene: IFIH1 HGNC NCBI

Linked Data

dbSNP Id: rs1682822481

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.162282234_162282236del , CM000664.2:g.162282234_162282236del GRCh38
NC_000002.11:g.163138744_163138746del , CM000664.1:g.163138744_163138746del GRCh37
NC_000002.10:g.162846990_162846992del NCBI36
NG_011495.1:g.41296_41298del

Transcript Alleles

HGVS Amino-acid Change
ENST00000697291.1:c.*903+132_*903+134del ENSP00000513228.1:n.*903+132_*903+134del
ENST00000648433.1:c.1306+132_1306+134del ENSP00000496816.1:n.1306+132_1306+134del
ENST00000649554.1:n.916+132_916+134del
ENST00000649979.2:c.1306+132_1306+134del MANE Select ENSP00000497271.1:n.1306+132_1306+134del
ENST00000679938.1:c.994+132_994+134del ENSP00000505518.1:n.994+132_994+134del
ENST00000263642.2:c.1306+132_1306+134del ENSP00000263642.2:n.1306+132_1306+134del
NM_022168.3:c.1306+132_1306+134del NP_071451.2:n.1306+132_1306+134del
XM_011511628.1:c.589+132_589+134del XP_011509930.1:n.589+132_589+134del
XM_011511629.1:c.1306+132_1306+134del XP_011509931.1:n.1306+132_1306+134del
NM_022168.4:c.1306+132_1306+134del MANE Select NP_071451.2:n.1306+132_1306+134del