Linked Data
dbSNP Id:
rs773845457
ExAC:
3:184045355 CTG / C
gnomAD v2:
3-184045355-CTG-C
gnomAD v3:
3-184327567-CTG-C
gnomAD v4:
3-184327567-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327571_184327572del , CM000665.2:g.184327571_184327572del | GRCh38 |
| NC_000003.11:g.184045359_184045360del , CM000665.1:g.184045359_184045360del | GRCh37 |
| NC_000003.10:g.185528053_185528054del | NCBI36 |
| NG_016850.1:g.18004_18005del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3662-15_3662-14del (EIF4G1) MANE Select | ENSP00000316879.5:n.3662-15_3662-14del | |
| ENST00000435046.7:c.3596-15_3596-14del (EIF4G1) | ENSP00000404754.3:n.3596-15_3596-14del | |
| ENST00000676453.1:c.3009-15_3009-14del (EIF4G1) | ENSP00000501695.1:n.3009-15_3009-14del | |
| ENST00000319274.10:c.3065-15_3065-14del (EIF4G1) | ENSP00000323737.7:n.3065-15_3065-14del | |
| ENST00000342981.8:c.3665-15_3665-14del (EIF4G1) | ENSP00000343450.4:n.3665-15_3665-14del | |
| ENST00000346169.6:c.3662-15_3662-14del (EIF4G1) | ENSP00000316879.4:n.3662-15_3662-14del | |
| ENST00000350481.9:c.3170-15_3170-14del (EIF4G1) | ENSP00000317600.8:n.3170-15_3170-14del | |
| ENST00000352767.7:c.3683-15_3683-14del (EIF4G1) | ENSP00000338020.4:n.3683-15_3683-14del | |
| ENST00000382330.7:c.3683-15_3683-14del (EIF4G1) | ENSP00000371767.3:n.3683-15_3683-14del | |
| ENST00000392537.6:c.3401-15_3401-14del (EIF4G1) | ENSP00000376320.2:n.3401-15_3401-14del | |
| ENST00000411531.5:c.3545-15_3545-14del (EIF4G1) | ENSP00000395974.1:n.3545-15_3545-14del | |
| ENST00000414031.5:c.3542-15_3542-14del (EIF4G1) | ENSP00000391935.1:n.3542-15_3542-14del | |
| ENST00000424196.5:c.3683-15_3683-14del (EIF4G1) | ENSP00000416255.1:n.3683-15_3683-14del | |
| ENST00000427845.5:c.3404-15_3404-14del (EIF4G1) | ENSP00000407682.1:n.3404-15_3404-14del | |
| ENST00000434061.6:c.3077-15_3077-14del (EIF4G1) | ENSP00000411826.2:n.3077-15_3077-14del | |
| ENST00000435046.6:c.3074-15_3074-14del (EIF4G1) | ENSP00000404754.2:n.3074-15_3074-14del | |
| ENST00000441154.5:c.3173-15_3173-14del (EIF4G1) | ENSP00000399858.1:n.3173-15_3173-14del | |
| ENST00000442406.5:c.*3101-15_*3101-14del (EIF4G1) | ENSP00000400351.1:n.*3101-15_*3101-14del | |
| ENST00000444495.1:c.2106+182864_2106+182865del (EIF2B5) | ENSP00000409142.1:n.2106+182864_2106+182865del | |
| ENST00000482303.1:n.164-15_164-14del (EIF4G1) | ||
| NM_001194946.1:c.3683-15_3683-14del (EIF4G1) | NP_001181875.1:n.3683-15_3683-14del | |
| NM_001194947.1:c.3683-15_3683-14del (EIF4G1) | NP_001181876.1:n.3683-15_3683-14del | |
| NM_001291157.1:c.3542-15_3542-14del (EIF4G1) | NP_001278086.1:n.3542-15_3542-14del | |
| NM_004953.4:c.3077-15_3077-14del (EIF4G1) | NP_004944.3:n.3077-15_3077-14del | |
| NM_182917.4:c.3665-15_3665-14del (EIF4G1) | NP_886553.3:n.3665-15_3665-14del | |
| NM_198241.2:c.3662-15_3662-14del (EIF4G1) | NP_937884.1:n.3662-15_3662-14del | |
| NM_198242.2:c.3170-15_3170-14del (EIF4G1) | NP_937885.1:n.3170-15_3170-14del | |
| NM_198244.2:c.3401-15_3401-14del (EIF4G1) | NP_937887.1:n.3401-15_3401-14del | |
| NM_001194946.2:c.3683-15_3683-14del (EIF4G1) | NP_001181875.2:n.3683-15_3683-14del | |
| NM_001291157.2:c.3542-15_3542-14del (EIF4G1) | NP_001278086.2:n.3542-15_3542-14del | |
| NM_004953.5:c.3077-15_3077-14del (EIF4G1) | NP_004944.3:n.3077-15_3077-14del | |
| NM_198241.3:c.3662-15_3662-14del (EIF4G1) MANE Select | NP_937884.2:n.3662-15_3662-14del | |
| NM_198242.3:c.3170-15_3170-14del (EIF4G1) | NP_937885.1:n.3170-15_3170-14del | |
| NM_198244.3:c.3401-15_3401-14del (EIF4G1) | NP_937887.2:n.3401-15_3401-14del | |
| NM_001194947.2:c.3683-15_3683-14del (EIF4G1) | NP_001181876.2:n.3683-15_3683-14del |