Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672636_119672637del , CM000672.2:g.119672636_119672637del | GRCh38 |
| NC_000010.10:g.121432148_121432149del , CM000672.1:g.121432148_121432149del | GRCh37 |
| NC_000010.9:g.121422138_121422139del | NCBI36 |
| NG_016125.1:g.26267_26268del , LRG_742:g.26267_26268del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.889_890del MANE Select | ENSP00000358081.4:p.Thr297ArgfsTer21 | |
| ENST00000369085.7:c.889_890del | ENSP00000358081.3:p.Thr297ArgfsTer21 | |
| ENST00000450186.1:c.715_716del | ENSP00000410036.1:p.Thr239ArgfsTer20 | |
| NM_004281.3:c.889_890del , LRG_742t1:c.889_890del | NP_004272.2:p.Thr297ArgfsTer21 | |
| XM_005270287.1:c.889_890del | XP_005270344.1:p.Thr297ArgfsTer20 | |
| XM_005270287.2:c.889_890del | XP_005270344.1:p.Thr297ArgfsTer20 | |
| NM_004281.4:c.889_890del MANE Select | NP_004272.2:p.Thr297ArgfsTer21 |