Linked Data
dbSNP Id:
rs1409841630
gnomAD v2:
3-184044985-TTGTC-T
gnomAD v3:
3-184327197-TTGTC-T
gnomAD v4:
3-184327197-TTGTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184327207_184327210del , CM000665.2:g.184327207_184327210del | GRCh38 |
| NC_000003.11:g.184044995_184044998del , CM000665.1:g.184044995_184044998del | GRCh37 |
| NC_000003.10:g.185527689_185527692del | NCBI36 |
| NG_016850.1:g.17640_17643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346169.7:c.3429-9_3429-6del (EIF4G1) MANE Select | ENSP00000316879.5:n.3429-9_3429-6del | |
| ENST00000435046.7:c.3363-9_3363-6del (EIF4G1) | ENSP00000404754.3:n.3363-9_3363-6del | |
| ENST00000676453.1:c.2776-9_2776-6del (EIF4G1) | ENSP00000501695.1:n.2776-9_2776-6del | |
| ENST00000319274.10:c.2835-9_2835-6del (EIF4G1) | ENSP00000323737.7:n.2835-9_2835-6del | |
| ENST00000342981.8:c.3432-9_3432-6del (EIF4G1) | ENSP00000343450.4:n.3432-9_3432-6del | |
| ENST00000346169.6:c.3429-9_3429-6del (EIF4G1) | ENSP00000316879.4:n.3429-9_3429-6del | |
| ENST00000350481.9:c.2937-9_2937-6del (EIF4G1) | ENSP00000317600.8:n.2937-9_2937-6del | |
| ENST00000352767.7:c.3450-9_3450-6del (EIF4G1) | ENSP00000338020.4:n.3450-9_3450-6del | |
| ENST00000382330.7:c.3450-9_3450-6del (EIF4G1) | ENSP00000371767.3:n.3450-9_3450-6del | |
| ENST00000392537.6:c.3168-9_3168-6del (EIF4G1) | ENSP00000376320.2:n.3168-9_3168-6del | |
| ENST00000411531.5:c.3312-9_3312-6del (EIF4G1) | ENSP00000395974.1:n.3312-9_3312-6del | |
| ENST00000414031.5:c.3309-9_3309-6del (EIF4G1) | ENSP00000391935.1:n.3309-9_3309-6del | |
| ENST00000424196.5:c.3450-9_3450-6del (EIF4G1) | ENSP00000416255.1:n.3450-9_3450-6del | |
| ENST00000427845.5:c.3171-9_3171-6del (EIF4G1) | ENSP00000407682.1:n.3171-9_3171-6del | |
| ENST00000434061.6:c.2844-9_2844-6del (EIF4G1) | ENSP00000411826.2:n.2844-9_2844-6del | |
| ENST00000435046.6:c.2841-9_2841-6del (EIF4G1) | ENSP00000404754.2:n.2841-9_2841-6del | |
| ENST00000441154.5:c.2940-9_2940-6del (EIF4G1) | ENSP00000399858.1:n.2940-9_2940-6del | |
| ENST00000442406.5:c.*2868-9_*2868-6del (EIF4G1) | ENSP00000400351.1:n.*2868-9_*2868-6del | |
| ENST00000444495.1:c.2106+182500_2106+182503del (EIF2B5) | ENSP00000409142.1:n.2106+182500_2106+182503del | |
| ENST00000448284.1:c.590-9_590-6del (EIF4G1) | ||
| NM_001194946.1:c.3450-9_3450-6del (EIF4G1) | NP_001181875.1:n.3450-9_3450-6del | |
| NM_001194947.1:c.3450-9_3450-6del (EIF4G1) | NP_001181876.1:n.3450-9_3450-6del | |
| NM_001291157.1:c.3309-9_3309-6del (EIF4G1) | NP_001278086.1:n.3309-9_3309-6del | |
| NM_004953.4:c.2844-9_2844-6del (EIF4G1) | NP_004944.3:n.2844-9_2844-6del | |
| NM_182917.4:c.3432-9_3432-6del (EIF4G1) | NP_886553.3:n.3432-9_3432-6del | |
| NM_198241.2:c.3429-9_3429-6del (EIF4G1) | NP_937884.1:n.3429-9_3429-6del | |
| NM_198242.2:c.2937-9_2937-6del (EIF4G1) | NP_937885.1:n.2937-9_2937-6del | |
| NM_198244.2:c.3168-9_3168-6del (EIF4G1) | NP_937887.1:n.3168-9_3168-6del | |
| NM_001194946.2:c.3450-9_3450-6del (EIF4G1) | NP_001181875.2:n.3450-9_3450-6del | |
| NM_001291157.2:c.3309-9_3309-6del (EIF4G1) | NP_001278086.2:n.3309-9_3309-6del | |
| NM_004953.5:c.2844-9_2844-6del (EIF4G1) | NP_004944.3:n.2844-9_2844-6del | |
| NM_198241.3:c.3429-9_3429-6del (EIF4G1) MANE Select | NP_937884.2:n.3429-9_3429-6del | |
| NM_198242.3:c.2937-9_2937-6del (EIF4G1) | NP_937885.1:n.2937-9_2937-6del | |
| NM_198244.3:c.3168-9_3168-6del (EIF4G1) | NP_937887.2:n.3168-9_3168-6del | |
| NM_001194947.2:c.3450-9_3450-6del (EIF4G1) | NP_001181876.2:n.3450-9_3450-6del |