Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767446_28767451del , CM000676.2:g.28767446_28767451del | GRCh38 |
| NC_000014.8:g.29236652_29236657del , CM000676.1:g.29236652_29236657del | GRCh37 |
| NC_000014.7:g.28306403_28306408del | NCBI36 |
| NG_009367.1:g.5366_5371del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.167_172del | ENSP00000516406.1:p.His56_His57del | |
| ENST00000313071.7:c.167_172del MANE Select | ENSP00000339004.3:p.His56_His57del | |
| ENST00000313071.6:c.167_172del | ENSP00000339004.3:p.His56_His57del | |
| NM_005249.4:c.167_172del | NP_005240.3:p.His56_His57del | |
| NM_005249.5:c.167_172del MANE Select | NP_005240.3:p.His56_His57del |