Canonical Allele Identifier: CA2661688874

Gene: IFIH1

Linked Data

• gnomAD v4: 2-162281436-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.162281437_162281438del , CM000664.2:g.162281437_162281438del	GRCh38
NC_000002.11:g.163137947_163137948del , CM000664.1:g.163137947_163137948del	GRCh37
NC_000002.10:g.162846193_162846194del	NCBI36
NG_011495.1:g.42092_42093del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697291.1:c.*1011_*1012del	ENSP00000513228.1:n.*1011_*1012del
ENST00000648433.1:c.1414_1415del	ENSP00000496816.1:p.Lys472GlufsTer?
ENST00000649554.1:n.1024_1025del
ENST00000649979.2:c.1414_1415del MANE Select	ENSP00000497271.1:p.Lys472GlufsTer?
ENST00000679938.1:c.1102_1103del	ENSP00000505518.1:p.Lys368GlufsTer?
ENST00000263642.2:c.1414_1415del	ENSP00000263642.2:p.Lys472GlufsTer?
NM_022168.3:c.1414_1415del	NP_071451.2:p.Lys472GlufsTer?
XM_011511628.1:c.697_698del	XP_011509930.1:p.Lys233GlufsTer?
XM_011511629.1:c.1414_1415del	XP_011509931.1:p.Lys472GlufsTer?
NM_022168.4:c.1414_1415del MANE Select	NP_071451.2:p.Lys472GlufsTer?