Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275633_44275634del , CM000673.2:g.44275633_44275634del | GRCh38 |
| NC_000011.9:g.44297183_44297184del , CM000673.1:g.44297183_44297184del | GRCh37 |
| NC_000011.8:g.44253759_44253760del | NCBI36 |
| NG_015809.1:g.39533_39534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.491_492del MANE Select | ENSP00000498217.1:p.Pro164ArgfsTer5 | |
| ENST00000329255.3:c.491_492del | ENSP00000332744.3:p.Pro164ArgfsTer5 | |
| NM_021926.3:c.491_492del | NP_068745.2:p.Pro164ArgfsTer5 | |
| XM_011520264.1:c.491_492del | XP_011518566.1:p.Pro164ArgfsTer5 | |
| XM_011520265.1:c.-32_-31del | XP_011518567.1:n.-32_-31del | |
| XM_011520266.1:c.-32_-31del | XP_011518568.1:n.-32_-31del | |
| NM_021926.4:c.491_492del MANE Select | NP_068745.2:p.Pro164ArgfsTer5 |