Linked Data
dbSNP Id:
rs781643809
ExAC:
3:184045001 CAGG / C
gnomAD v2:
3-184045001-CAGG-C
gnomAD v4:
3-184327213-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327216_184327218del , CM000665.2:g.184327216_184327218del | GRCh38 |
| NC_000003.11:g.184045004_184045006del , CM000665.1:g.184045004_184045006del | GRCh37 |
| NC_000003.10:g.185527698_185527700del | NCBI36 |
| NG_016850.1:g.17649_17651del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3429_3431del (EIF4G1) | ||
| ENST00000435046.7:c.3363_3365del (EIF4G1) | ||
| ENST00000676453.1:c.2776_2778del (EIF4G1) | ||
| ENST00000319274.10:c.2835_2837del (EIF4G1) | ||
| ENST00000342981.8:c.3432_3434del (EIF4G1) | ||
| ENST00000346169.6:c.3429_3431del (EIF4G1) | ||
| ENST00000350481.9:c.2937_2939del (EIF4G1) | ||
| ENST00000352767.7:c.3450_3452del (EIF4G1) | ||
| ENST00000382330.7:c.3450_3452del (EIF4G1) | ||
| ENST00000392537.6:c.3168_3170del (EIF4G1) | ||
| ENST00000411531.5:c.3312_3314del (EIF4G1) | ||
| ENST00000414031.5:c.3309_3311del (EIF4G1) | ||
| ENST00000424196.5:c.3450_3452del (EIF4G1) | ||
| ENST00000427845.5:c.3171_3173del (EIF4G1) | ||
| ENST00000434061.6:c.2844_2846del (EIF4G1) | ||
| ENST00000435046.6:c.2841_2843del (EIF4G1) | ||
| ENST00000441154.5:c.2940_2942del (EIF4G1) | ||
| ENST00000442406.5:c.*2868_*2870del (EIF4G1) | ||
| ENST00000444495.1:c.2106+182509_2106+182511del (EIF2B5) | ENSP00000409142.1:n.2106+182509_2106+182511del | |
| ENST00000448284.1:c.590_592del (EIF4G1) | ||
| NM_001194946.1:c.3450_3452del (EIF4G1) | ||
| NM_001194947.1:c.3450_3452del (EIF4G1) | ||
| NM_001291157.1:c.3309_3311del (EIF4G1) | ||
| NM_004953.4:c.2844_2846del (EIF4G1) | ||
| NM_182917.4:c.3432_3434del (EIF4G1) | ||
| NM_198241.2:c.3429_3431del (EIF4G1) | ||
| NM_198242.2:c.2937_2939del (EIF4G1) | ||
| NM_198244.2:c.3168_3170del (EIF4G1) | ||
| NM_001194946.2:c.3450_3452del (EIF4G1) | ||
| NM_001291157.2:c.3309_3311del (EIF4G1) | ||
| NM_004953.5:c.2844_2846del (EIF4G1) | ||
| NM_198241.3:c.3429_3431del (EIF4G1) | ||
| NM_198242.3:c.2937_2939del (EIF4G1) | ||
| NM_198244.3:c.3168_3170del (EIF4G1) | ||
| NM_001194947.2:c.3450_3452del (EIF4G1) |