Revel Score:
ENST00000397262
0.957
ENST00000250971
0.957
ENST00000381330 (MANE Select)
0.957
ENST00000512523
0.957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2159862T>C , CM000673.2:g.2159862T>C | GRCh38 |
| NC_000011.9:g.2181092T>C , CM000673.1:g.2181092T>C | GRCh37 |
| NC_000011.8:g.2137668T>C | NCBI36 |
| NG_007114.1:g.6333A>G | |
| NG_050578.1:g.6348A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381330.5:c.323A>G (INS) MANE Select | ENSP00000370731.5:p.Tyr108Cys | |
| ENST00000250971.7:c.323A>G (INS) | ENSP00000250971.3:p.Tyr108Cys | |
| ENST00000356578.8:c.187+923A>G (INS-IGF2) | ENSP00000348986.4:n.187+923A>G | |
| ENST00000381330.4:c.323A>G (INS) | ENSP00000370731.4:p.Tyr108Cys | |
| ENST00000397262.5:c.323A>G (INS) | ENSP00000380432.1:p.Tyr108Cys | |
| ENST00000397270.1:c.187+923A>G (INS-IGF2) | ENSP00000380440.1:n.187+923A>G | |
| ENST00000421783.1:c.198A>G (INS) | ENSP00000408400.1:p.Leu66= | |
| ENST00000512523.1:c.287A>G (INS) | ENSP00000424008.1:p.Tyr96Cys | |
| NM_000207.2:c.323A>G (INS) | NP_000198.1:p.Tyr108Cys | |
| NM_001042376.2:c.187+923A>G (INS-IGF2) | NP_001035835.1:n.187+923A>G | |
| NM_001185097.1:c.323A>G (INS) | NP_001172026.1:p.Tyr108Cys | |
| NM_001185098.1:c.323A>G (INS) | NP_001172027.1:p.Tyr108Cys | |
| NM_001291897.1:c.323A>G (INS) | NP_001278826.1:p.Tyr108Cys | |
| NR_003512.3:n.246+923A>G (INS-IGF2) | ||
| NM_000207.3:c.323A>G (INS) MANE Select | NP_000198.1:p.Tyr108Cys | |
| NM_001042376.3:c.187+923A>G (INS-IGF2) | NP_001035835.1:n.187+923A>G | |
| NM_001185097.2:c.323A>G (INS) | NP_001172026.1:p.Tyr108Cys | |
| NM_001291897.2:c.323A>G (INS) | NP_001278826.1:p.Tyr108Cys | |
| NR_003512.4:n.246+923A>G (INS-IGF2) | ||
| NM_001185098.2:c.323A>G (INS) | NP_001172027.1:p.Tyr108Cys |