Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269998_31269999insT , CM000668.2:g.31269998_31269999insT | GRCh38 |
| NC_000006.11:g.31237775_31237776insT , CM000668.1:g.31237775_31237776insT | GRCh37 |
| NC_000006.10:g.31345754_31345755insT | NCBI36 |
| NG_029422.2:g.7133_7134insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.982_983insA MANE Select | ENSP00000365402.5:p.Val328AspfsTer7 | |
| ENST00000376228.9:c.982_983insA | ENSP00000365402.5:p.Val328AspfsTer7 | |
| ENST00000376237.8:c.*569_*570insA | ENSP00000365412.4:n.*569_*570insA | |
| ENST00000383329.7:c.982_983insA | ENSP00000372819.3:p.Val328AspfsTer7 | |
| ENST00000470363.5:n.300_301insA | ||
| ENST00000487245.5:n.1341_1342insA | ||
| NM_002117.5:c.982_983insA | NP_002108.4:p.Val328AspfsTer7 | |
| NM_002117.6:c.982_983insA MANE Select | NP_002108.4:p.Val328AspfsTer7 |