Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81577981_81578006del , CM000665.2:g.81577981_81578006del | GRCh38 |
| NC_000003.11:g.81627132_81627157del , CM000665.1:g.81627132_81627157del | GRCh37 |
| NC_000003.10:g.81709822_81709847del | NCBI36 |
| NG_011810.1:g.188796_188821del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000429644.7:c.1538_1563del MANE Select | ENSP00000410833.2:p.Ile513AsnfsTer20 | |
| ENST00000429644.6:c.1538_1563del | ENSP00000410833.2:p.Ile513AsnfsTer20 | |
| ENST00000489715.1:c.1415_1440del | ENSP00000419638.1:p.Ile472AsnfsTer20 | |
| NM_000158.3:c.1538_1563del | NP_000149.3:p.Ile513AsnfsTer20 | |
| NM_000158.4:c.1538_1563del MANE Select | NP_000149.4:p.Ile513AsnfsTer20 |