Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269988_31269989insCC , CM000668.2:g.31269988_31269989insCC | GRCh38 |
| NC_000006.11:g.31237765_31237766insCC , CM000668.1:g.31237765_31237766insCC | GRCh37 |
| NC_000006.10:g.31345744_31345745insCC | NCBI36 |
| NG_029422.2:g.7144_7145insGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.993_994insGG MANE Select | ENSP00000365402.5:p.Met332GlyfsTer? | |
| ENST00000376228.9:c.993_994insGG | ENSP00000365402.5:p.Met332GlyfsTer? | |
| ENST00000376237.8:c.*580_*581insGG | ENSP00000365412.4:n.*580_*581insGG | |
| ENST00000383329.7:c.993_994insGG | ENSP00000372819.3:p.Met332GlyfsTer? | |
| ENST00000470363.5:n.311_312insGG | ||
| ENST00000487245.5:n.1352_1353insGG | ||
| NM_002117.5:c.993_994insGG | NP_002108.4:p.Met332GlyfsTer? | |
| NM_002117.6:c.993_994insGG MANE Select | NP_002108.4:p.Met332GlyfsTer? |