Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4934495_4934496del , CM000679.2:g.4934495_4934496del | GRCh38 |
| NC_000017.10:g.4837790_4837791del , CM000679.1:g.4837790_4837791del | GRCh37 |
| NC_000017.9:g.4778531_4778532del | NCBI36 |
| NG_008767.2:g.7201_7202del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000173.7:c.1891_1892del MANE Select | NP_000164.5:p.Leu631GlufsTer15 |
| ENST00000329125.6:c.1891_1892del MANE Select | ENSP00000329380.5:p.Leu631GlufsTer15 |
| NM_000173.6:c.1891_1892del | NP_000164.5:p.Leu631GlufsTer15 |
| ENST00000329125.5:c.1891_1892del | ENSP00000329380.5:p.Leu631GlufsTer15 |
| ENST00000611961.1:c.1813_1814del | ENSP00000484439.1:p.Leu605GlufsTer15 |