Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270021_31270022insTG , CM000668.2:g.31270021_31270022insTG | GRCh38 |
| NC_000006.11:g.31237798_31237799insTG , CM000668.1:g.31237798_31237799insTG | GRCh37 |
| NC_000006.10:g.31345777_31345778insTG | NCBI36 |
| NG_029422.2:g.7111_7112insAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.960_961insAC MANE Select | ENSP00000365402.5:p.Leu321ThrfsTer2 | |
| ENST00000376228.9:c.960_961insAC | ENSP00000365402.5:p.Leu321ThrfsTer2 | |
| ENST00000376237.8:c.*547_*548insAC | ENSP00000365412.4:n.*547_*548insAC | |
| ENST00000383329.7:c.960_961insAC | ENSP00000372819.3:p.Leu321ThrfsTer2 | |
| ENST00000470363.5:n.278_279insAC | ||
| ENST00000487245.5:n.1319_1320insAC | ||
| NM_002117.5:c.960_961insAC | NP_002108.4:p.Leu321ThrfsTer2 | |
| NM_002117.6:c.960_961insAC MANE Select | NP_002108.4:p.Leu321ThrfsTer2 |