Linked Data
dbSNP Id:
rs781188083
gnomAD v2:
3-184039746-AGAAGAAGAAGAAGAG-A
gnomAD v3:
3-184321958-AGAAGAAGAAGAAGAG-A
gnomAD v4:
3-184321958-AGAAGAAGAAGAAGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184321966_184321980del , CM000665.2:g.184321966_184321980del | GRCh38 |
| NC_000003.11:g.184039754_184039768del , CM000665.1:g.184039754_184039768del | GRCh37 |
| NC_000003.10:g.185522448_185522462del | NCBI36 |
| NG_016850.1:g.12399_12413del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.1382_1396del (EIF4G1) MANE Select | ENSP00000316879.5:p.Glu461_Glu465del | |
| ENST00000435046.7:c.1316_1330del (EIF4G1) | ENSP00000404754.3:p.Glu439_Glu443del | |
| ENST00000676453.1:c.752_766del (EIF4G1) | ENSP00000501695.1:p.Glu251_Glu255del | |
| ENST00000319274.10:c.794_808del (EIF4G1) | ENSP00000323737.7:p.Glu265_Glu269del | |
| ENST00000342981.8:c.1382_1396del (EIF4G1) | ENSP00000343450.4:p.Glu461_Glu465del | |
| ENST00000346169.6:c.1382_1396del (EIF4G1) | ENSP00000316879.4:p.Glu461_Glu465del | |
| ENST00000350481.9:c.890_904del (EIF4G1) | ENSP00000317600.8:p.Glu297_Glu301del | |
| ENST00000352767.7:c.1403_1417del (EIF4G1) | ENSP00000338020.4:p.Glu468_Glu472del | |
| ENST00000382330.7:c.1403_1417del (EIF4G1) | ENSP00000371767.3:p.Glu468_Glu472del | |
| ENST00000392537.6:c.1121_1135del (EIF4G1) | ENSP00000376320.2:p.Glu374_Glu378del | |
| ENST00000411531.5:c.1262_1276del (EIF4G1) | ENSP00000395974.1:p.Glu421_Glu425del | |
| ENST00000413967.5:c.*889_*903del (EIF4G1) | ENSP00000390755.1:n.*889_*903del | |
| ENST00000414031.5:c.1262_1276del (EIF4G1) | ENSP00000391935.1:p.Glu421_Glu425del | |
| ENST00000421110.5:c.1403_1417del (EIF4G1) | ENSP00000413159.1:p.Glu468_Glu472del | |
| ENST00000424196.5:c.1403_1417del (EIF4G1) | ENSP00000416255.1:p.Glu468_Glu472del | |
| ENST00000426123.5:c.1205_1219del (EIF4G1) | ENSP00000403269.1:p.Glu402_Glu406del | |
| ENST00000427845.5:c.1121_1135del (EIF4G1) | ENSP00000407682.1:p.Glu374_Glu378del | |
| ENST00000434061.6:c.794_808del (EIF4G1) | ENSP00000411826.2:p.Glu265_Glu269del | |
| ENST00000435046.6:c.794_808del (EIF4G1) | ENSP00000404754.2:p.Glu265_Glu269del | |
| ENST00000441154.5:c.890_904del (EIF4G1) | ENSP00000399858.1:p.Glu297_Glu301del | |
| ENST00000442406.5:c.*821_*835del (EIF4G1) | ENSP00000400351.1:n.*821_*835del | |
| ENST00000444495.1:c.2106+177259_2106+177273del (EIF2B5) | ENSP00000409142.1:n.2106+177259_2106+177273del | |
| ENST00000444861.5:c.890_904del (EIF4G1) | ENSP00000398145.1:p.Glu297_Glu301del | |
| ENST00000450424.5:c.1382_1396del (EIF4G1) | ENSP00000391412.1:p.Glu461_Glu465del | |
| ENST00000457456.5:c.794_808del (EIF4G1) | ENSP00000399969.1:p.Glu265_Glu269del | |
| NM_001194946.1:c.1403_1417del (EIF4G1) | NP_001181875.1:p.Glu468_Glu472del | |
| NM_001194947.1:c.1403_1417del (EIF4G1) | NP_001181876.1:p.Glu468_Glu472del | |
| NM_001291157.1:c.1262_1276del (EIF4G1) | NP_001278086.1:p.Glu421_Glu425del | |
| NM_004953.4:c.794_808del (EIF4G1) | NP_004944.3:p.Glu265_Glu269del | |
| NM_182917.4:c.1382_1396del (EIF4G1) | NP_886553.3:p.Glu461_Glu465del | |
| NM_198241.2:c.1382_1396del (EIF4G1) | NP_937884.1:p.Glu461_Glu465del | |
| NM_198242.2:c.890_904del (EIF4G1) | NP_937885.1:p.Glu297_Glu301del | |
| NM_198244.2:c.1121_1135del (EIF4G1) | NP_937887.1:p.Glu374_Glu378del | |
| NM_001194946.2:c.1403_1417del (EIF4G1) | NP_001181875.2:p.Glu468_Glu472del | |
| NM_001291157.2:c.1262_1276del (EIF4G1) | NP_001278086.2:p.Glu421_Glu425del | |
| NM_004953.5:c.794_808del (EIF4G1) | NP_004944.3:p.Glu265_Glu269del | |
| NM_198241.3:c.1382_1396del (EIF4G1) MANE Select | NP_937884.2:p.Glu461_Glu465del | |
| NM_198242.3:c.890_904del (EIF4G1) | NP_937885.1:p.Glu297_Glu301del | |
| NM_198244.3:c.1121_1135del (EIF4G1) | NP_937887.2:p.Glu374_Glu378del | |
| NM_001194947.2:c.1403_1417del (EIF4G1) | NP_001181876.2:p.Glu468_Glu472del |