Linked Data
dbSNP Id:
rs1300712997
gnomAD v3:
3-184322172-C-CGCCCA
gnomAD v4:
3-184322172-C-CGCCCA
MyVariant Identifiers:
chr3:g.184039960_184039961insGCCCA (hg19)
chr3:g.184322172_184322173insGCCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184322173_184322177dup , CM000665.2:g.184322173_184322177dup | GRCh38 |
| NC_000003.11:g.184039961_184039965dup , CM000665.1:g.184039961_184039965dup | GRCh37 |
| NC_000003.10:g.185522655_185522659dup | NCBI36 |
| NG_016850.1:g.12606_12610dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.1519+70_1519+74dup (EIF4G1) MANE Select | ENSP00000316879.5:n.1519+70_1519+74dup | |
| ENST00000435046.7:c.1453+70_1453+74dup (EIF4G1) | ENSP00000404754.3:n.1453+70_1453+74dup | |
| ENST00000676453.1:c.889+70_889+74dup (EIF4G1) | ENSP00000501695.1:n.889+70_889+74dup | |
| ENST00000319274.10:c.931+70_931+74dup (EIF4G1) | ENSP00000323737.7:n.931+70_931+74dup | |
| ENST00000342981.8:c.1519+70_1519+74dup (EIF4G1) | ENSP00000343450.4:n.1519+70_1519+74dup | |
| ENST00000346169.6:c.1519+70_1519+74dup (EIF4G1) | ENSP00000316879.4:n.1519+70_1519+74dup | |
| ENST00000350481.9:c.1027+70_1027+74dup (EIF4G1) | ENSP00000317600.8:n.1027+70_1027+74dup | |
| ENST00000352767.7:c.1540+70_1540+74dup (EIF4G1) | ENSP00000338020.4:n.1540+70_1540+74dup | |
| ENST00000382330.7:c.1540+70_1540+74dup (EIF4G1) | ENSP00000371767.3:n.1540+70_1540+74dup | |
| ENST00000392537.6:c.1258+70_1258+74dup (EIF4G1) | ENSP00000376320.2:n.1258+70_1258+74dup | |
| ENST00000411531.5:c.1399+70_1399+74dup (EIF4G1) | ENSP00000395974.1:n.1399+70_1399+74dup | |
| ENST00000413967.5:c.*1026+70_*1026+74dup (EIF4G1) | ENSP00000390755.1:n.*1026+70_*1026+74dup | |
| ENST00000414031.5:c.1399+70_1399+74dup (EIF4G1) | ENSP00000391935.1:n.1399+70_1399+74dup | |
| ENST00000421110.5:c.1540+70_1540+74dup (EIF4G1) | ENSP00000413159.1:n.1540+70_1540+74dup | |
| ENST00000424196.5:c.1540+70_1540+74dup (EIF4G1) | ENSP00000416255.1:n.1540+70_1540+74dup | |
| ENST00000426123.5:c.1342+70_1342+74dup (EIF4G1) | ENSP00000403269.1:n.1342+70_1342+74dup | |
| ENST00000427845.5:c.1258+70_1258+74dup (EIF4G1) | ENSP00000407682.1:n.1258+70_1258+74dup | |
| ENST00000434061.6:c.931+70_931+74dup (EIF4G1) | ENSP00000411826.2:n.931+70_931+74dup | |
| ENST00000435046.6:c.931+70_931+74dup (EIF4G1) | ENSP00000404754.2:n.931+70_931+74dup | |
| ENST00000441154.5:c.1027+70_1027+74dup (EIF4G1) | ENSP00000399858.1:n.1027+70_1027+74dup | |
| ENST00000442406.5:c.*958+70_*958+74dup (EIF4G1) | ENSP00000400351.1:n.*958+70_*958+74dup | |
| ENST00000444495.1:c.2106+177466_2106+177470dup (EIF2B5) | ENSP00000409142.1:n.2106+177466_2106+177470dup | |
| ENST00000444861.5:c.1027+70_1027+74dup (EIF4G1) | ENSP00000398145.1:n.1027+70_1027+74dup | |
| ENST00000450424.5:c.1519+70_1519+74dup (EIF4G1) | ENSP00000391412.1:n.1519+70_1519+74dup | |
| NM_001194946.1:c.1540+70_1540+74dup (EIF4G1) | NP_001181875.1:n.1540+70_1540+74dup | |
| NM_001194947.1:c.1540+70_1540+74dup (EIF4G1) | NP_001181876.1:n.1540+70_1540+74dup | |
| NM_001291157.1:c.1399+70_1399+74dup (EIF4G1) | NP_001278086.1:n.1399+70_1399+74dup | |
| NM_004953.4:c.931+70_931+74dup (EIF4G1) | NP_004944.3:n.931+70_931+74dup | |
| NM_182917.4:c.1519+70_1519+74dup (EIF4G1) | NP_886553.3:n.1519+70_1519+74dup | |
| NM_198241.2:c.1519+70_1519+74dup (EIF4G1) | NP_937884.1:n.1519+70_1519+74dup | |
| NM_198242.2:c.1027+70_1027+74dup (EIF4G1) | NP_937885.1:n.1027+70_1027+74dup | |
| NM_198244.2:c.1258+70_1258+74dup (EIF4G1) | NP_937887.1:n.1258+70_1258+74dup | |
| NM_001194946.2:c.1540+70_1540+74dup (EIF4G1) | NP_001181875.2:n.1540+70_1540+74dup | |
| NM_001291157.2:c.1399+70_1399+74dup (EIF4G1) | NP_001278086.2:n.1399+70_1399+74dup | |
| NM_004953.5:c.931+70_931+74dup (EIF4G1) | NP_004944.3:n.931+70_931+74dup | |
| NM_198241.3:c.1519+70_1519+74dup (EIF4G1) MANE Select | NP_937884.2:n.1519+70_1519+74dup | |
| NM_198242.3:c.1027+70_1027+74dup (EIF4G1) | NP_937885.1:n.1027+70_1027+74dup | |
| NM_198244.3:c.1258+70_1258+74dup (EIF4G1) | NP_937887.2:n.1258+70_1258+74dup | |
| NM_001194947.2:c.1540+70_1540+74dup (EIF4G1) | NP_001181876.2:n.1540+70_1540+74dup |