Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738836dup , CM000674.2:g.120738836dup | GRCh38 |
| NC_000012.11:g.121176639dup , CM000674.1:g.121176639dup | GRCh37 |
| NC_000012.10:g.119661022dup | NCBI36 |
| NG_007991.1:g.18069dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.950dup MANE Select | ENSP00000242592.4:p.Met317IlefsTer21 | |
| ENST00000242592.8:c.950dup | ENSP00000242592.4:p.Met317IlefsTer21 | |
| ENST00000411593.2:c.938dup | ENSP00000401045.2:p.Met313IlefsTer21 | |
| NM_000017.3:c.950dup | NP_000008.1:p.Met317IlefsTer21 | |
| NM_001302554.1:c.938dup | NP_001289483.1:p.Met313IlefsTer21 | |
| NM_000017.4:c.950dup MANE Select | NP_000008.1:p.Met317IlefsTer21 | |
| NM_001302554.2:c.938dup | NP_001289483.1:p.Met313IlefsTer21 |