Linked Data
dbSNP Id:
rs748529196
gnomAD v2:
3-184045037-TGGAGACCGA-T
gnomAD v3:
3-184327249-TGGAGACCGA-T
gnomAD v4:
3-184327249-TGGAGACCGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327258_184327266del , CM000665.2:g.184327258_184327266del | GRCh38 |
| NC_000003.11:g.184045046_184045054del , CM000665.1:g.184045046_184045054del | GRCh37 |
| NC_000003.10:g.185527740_185527748del | NCBI36 |
| NG_016850.1:g.17691_17699del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3471_3479del (EIF4G1) MANE Select | ENSP00000316879.5:p.Gly1158_Arg1160del | |
| ENST00000435046.7:c.3405_3413del (EIF4G1) | ENSP00000404754.3:p.Gly1136_Arg1138del | |
| ENST00000676453.1:c.2818_2826del (EIF4G1) | ENSP00000501695.1:n.2818_2826del | |
| ENST00000319274.10:c.2877_2885del (EIF4G1) | ENSP00000323737.7:p.Gly960_Arg962del | |
| ENST00000342981.8:c.3474_3482del (EIF4G1) | ENSP00000343450.4:p.Gly1159_Arg1161del | |
| ENST00000346169.6:c.3471_3479del (EIF4G1) | ENSP00000316879.4:p.Gly1158_Arg1160del | |
| ENST00000350481.9:c.2979_2987del (EIF4G1) | ENSP00000317600.8:p.Gly994_Arg996del | |
| ENST00000352767.7:c.3492_3500del (EIF4G1) | ENSP00000338020.4:p.Gly1165_Arg1167del | |
| ENST00000382330.7:c.3492_3500del (EIF4G1) | ENSP00000371767.3:p.Gly1165_Arg1167del | |
| ENST00000392537.6:c.3210_3218del (EIF4G1) | ENSP00000376320.2:p.Gly1071_Arg1073del | |
| ENST00000411531.5:c.3354_3362del (EIF4G1) | ENSP00000395974.1:p.Gly1119_Arg1121del | |
| ENST00000414031.5:c.3351_3359del (EIF4G1) | ENSP00000391935.1:p.Gly1118_Arg1120del | |
| ENST00000424196.5:c.3492_3500del (EIF4G1) | ENSP00000416255.1:p.Gly1165_Arg1167del | |
| ENST00000427845.5:c.3213_3221del (EIF4G1) | ENSP00000407682.1:p.Gly1072_Arg1074del | |
| ENST00000434061.6:c.2886_2894del (EIF4G1) | ENSP00000411826.2:p.Gly963_Arg965del | |
| ENST00000435046.6:c.2883_2891del (EIF4G1) | ENSP00000404754.2:p.Gly962_Arg964del | |
| ENST00000441154.5:c.2982_2990del (EIF4G1) | ENSP00000399858.1:p.Gly995_Arg997del | |
| ENST00000442406.5:c.*2910_*2918del (EIF4G1) | ENSP00000400351.1:n.*2910_*2918del | |
| ENST00000444495.1:c.2106+182551_2106+182559del (EIF2B5) | ENSP00000409142.1:n.2106+182551_2106+182559del | |
| ENST00000448284.1:c.632_640del (EIF4G1) | ||
| NM_001194946.1:c.3492_3500del (EIF4G1) | NP_001181875.1:p.Gly1165_Arg1167del | |
| NM_001194947.1:c.3492_3500del (EIF4G1) | NP_001181876.1:p.Gly1165_Arg1167del | |
| NM_001291157.1:c.3351_3359del (EIF4G1) | NP_001278086.1:p.Gly1118_Arg1120del | |
| NM_004953.4:c.2886_2894del (EIF4G1) | NP_004944.3:p.Gly963_Arg965del | |
| NM_182917.4:c.3474_3482del (EIF4G1) | NP_886553.3:p.Gly1159_Arg1161del | |
| NM_198241.2:c.3471_3479del (EIF4G1) | NP_937884.1:p.Gly1158_Arg1160del | |
| NM_198242.2:c.2979_2987del (EIF4G1) | NP_937885.1:p.Gly994_Arg996del | |
| NM_198244.2:c.3210_3218del (EIF4G1) | NP_937887.1:p.Gly1071_Arg1073del | |
| NM_001194946.2:c.3492_3500del (EIF4G1) | NP_001181875.2:p.Gly1165_Arg1167del | |
| NM_001291157.2:c.3351_3359del (EIF4G1) | NP_001278086.2:p.Gly1118_Arg1120del | |
| NM_004953.5:c.2886_2894del (EIF4G1) | NP_004944.3:p.Gly963_Arg965del | |
| NM_198241.3:c.3471_3479del (EIF4G1) MANE Select | NP_937884.2:p.Gly1158_Arg1160del | |
| NM_198242.3:c.2979_2987del (EIF4G1) | NP_937885.1:p.Gly994_Arg996del | |
| NM_198244.3:c.3210_3218del (EIF4G1) | NP_937887.2:p.Gly1071_Arg1073del | |
| NM_001194947.2:c.3492_3500del (EIF4G1) | NP_001181876.2:p.Gly1165_Arg1167del |