Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60646330_60646331del , CM000676.2:g.60646330_60646331del | GRCh38 |
| NC_000014.8:g.61113048_61113049del , CM000676.1:g.61113048_61113049del | GRCh37 |
| NC_000014.7:g.60182801_60182802del | NCBI36 |
| NG_008231.1:g.8111_8112del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005982.4:c.811_812del MANE Select | NP_005973.1:p.Leu271AlafsTer? |
| ENST00000645694.3:c.811_812del MANE Select | ENSP00000494686.1:p.Leu271AlafsTer? |
| NM_005982.3:c.811_812del | NP_005973.1:p.Leu271AlafsTer? |
| ENST00000247182.6:c.811_812del | ENSP00000247182.5:p.Leu271AlafsTer? |
| ENST00000553535.2:n.499_500del | |
| ENST00000554986.2:c.292_293del | ENSP00000452700.2:p.Leu98AlafsTer? |
| ENST00000555955.3:n.1448_1449del | |
| XM_017021602.2:c.*230_*231del | XP_016877091.1:n.*230_*231del |