Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919909_89919919del , CM000678.2:g.89919909_89919919del | GRCh38 |
| NC_000016.9:g.89986317_89986327del , CM000678.1:g.89986317_89986327del | GRCh37 |
| NC_000016.8:g.88513818_88513828del | NCBI36 |
| NG_012026.1:g.7031_7041del | |
| NG_027810.1:g.2901_2911del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.651_661del MANE Select | ENSP00000451605.1:p.Ala218ArgfsTer17 | |
| ENST00000639847.1:c.651_661del | ENSP00000492011.1:p.Ala218ArgfsTer17 | |
| ENST00000555147.1:c.651_661del | ENSP00000451605.1:p.Ala218ArgfsTer17 | |
| ENST00000555427.1:c.651_661del | ENSP00000451760.1:p.Ala218ArgfsTer17 | |
| ENST00000556922.1:c.651_661del | ENSP00000451560.1:p.Ala218ArgfsTer17 | |
| NM_002386.3:c.651_661del | NP_002377.4:p.Ala218ArgfsTer17 | |
| NM_002386.4:c.651_661del MANE Select | NP_002377.4:p.Ala218ArgfsTer17 |