Linked Data
dbSNP Id:
rs1265725999
gnomAD v2:
3-184045076-AGGGGACCGT-A
gnomAD v3:
3-184327288-AGGGGACCGT-A
gnomAD v4:
3-184327288-AGGGGACCGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327297_184327305del , CM000665.2:g.184327297_184327305del | GRCh38 |
| NC_000003.11:g.184045085_184045093del , CM000665.1:g.184045085_184045093del | GRCh37 |
| NC_000003.10:g.185527779_185527787del | NCBI36 |
| NG_016850.1:g.17730_17738del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3510_3518del (EIF4G1) MANE Select | ENSP00000316879.5:p.Gly1171_Arg1173del | |
| ENST00000435046.7:c.3444_3452del (EIF4G1) | ENSP00000404754.3:p.Gly1149_Arg1151del | |
| ENST00000676453.1:c.2857_2865del (EIF4G1) | ENSP00000501695.1:n.2857_2865del | |
| ENST00000319274.10:c.2915_2923del (EIF4G1) | ENSP00000323737.7:p.Val972_Thr974del | |
| ENST00000342981.8:c.3513_3521del (EIF4G1) | ENSP00000343450.4:p.Gly1172_Arg1174del | |
| ENST00000346169.6:c.3510_3518del (EIF4G1) | ENSP00000316879.4:p.Gly1171_Arg1173del | |
| ENST00000350481.9:c.3018_3026del (EIF4G1) | ENSP00000317600.8:p.Gly1007_Arg1009del | |
| ENST00000352767.7:c.3531_3539del (EIF4G1) | ENSP00000338020.4:p.Gly1178_Arg1180del | |
| ENST00000382330.7:c.3531_3539del (EIF4G1) | ENSP00000371767.3:p.Gly1178_Arg1180del | |
| ENST00000392537.6:c.3249_3257del (EIF4G1) | ENSP00000376320.2:p.Gly1084_Arg1086del | |
| ENST00000411531.5:c.3393_3401del (EIF4G1) | ENSP00000395974.1:p.Gly1132_Arg1134del | |
| ENST00000414031.5:c.3390_3398del (EIF4G1) | ENSP00000391935.1:p.Gly1131_Arg1133del | |
| ENST00000424196.5:c.3531_3539del (EIF4G1) | ENSP00000416255.1:p.Gly1178_Arg1180del | |
| ENST00000427845.5:c.3252_3260del (EIF4G1) | ENSP00000407682.1:p.Gly1085_Arg1087del | |
| ENST00000434061.6:c.2925_2933del (EIF4G1) | ENSP00000411826.2:p.Gly976_Arg978del | |
| ENST00000435046.6:c.2922_2930del (EIF4G1) | ENSP00000404754.2:p.Gly975_Arg977del | |
| ENST00000441154.5:c.3021_3029del (EIF4G1) | ENSP00000399858.1:p.Gly1008_Arg1010del | |
| ENST00000442406.5:c.*2949_*2957del (EIF4G1) | ENSP00000400351.1:n.*2949_*2957del | |
| ENST00000444495.1:c.2106+182590_2106+182598del (EIF2B5) | ENSP00000409142.1:n.2106+182590_2106+182598del | |
| ENST00000482303.1:n.12_20del (EIF4G1) | ||
| NM_001194946.1:c.3531_3539del (EIF4G1) | NP_001181875.1:p.Gly1178_Arg1180del | |
| NM_001194947.1:c.3531_3539del (EIF4G1) | NP_001181876.1:p.Gly1178_Arg1180del | |
| NM_001291157.1:c.3390_3398del (EIF4G1) | NP_001278086.1:p.Gly1131_Arg1133del | |
| NM_004953.4:c.2925_2933del (EIF4G1) | NP_004944.3:p.Gly976_Arg978del | |
| NM_182917.4:c.3513_3521del (EIF4G1) | NP_886553.3:p.Gly1172_Arg1174del | |
| NM_198241.2:c.3510_3518del (EIF4G1) | NP_937884.1:p.Gly1171_Arg1173del | |
| NM_198242.2:c.3018_3026del (EIF4G1) | NP_937885.1:p.Gly1007_Arg1009del | |
| NM_198244.2:c.3249_3257del (EIF4G1) | NP_937887.1:p.Gly1084_Arg1086del | |
| NM_001194946.2:c.3531_3539del (EIF4G1) | NP_001181875.2:p.Gly1178_Arg1180del | |
| NM_001291157.2:c.3390_3398del (EIF4G1) | NP_001278086.2:p.Gly1131_Arg1133del | |
| NM_004953.5:c.2925_2933del (EIF4G1) | NP_004944.3:p.Gly976_Arg978del | |
| NM_198241.3:c.3510_3518del (EIF4G1) MANE Select | NP_937884.2:p.Gly1171_Arg1173del | |
| NM_198242.3:c.3018_3026del (EIF4G1) | NP_937885.1:p.Gly1007_Arg1009del | |
| NM_198244.3:c.3249_3257del (EIF4G1) | NP_937887.2:p.Gly1084_Arg1086del | |
| NM_001194947.2:c.3531_3539del (EIF4G1) | NP_001181876.2:p.Gly1178_Arg1180del |