Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644294_23644295del , CM000677.2:g.23644294_23644295del | GRCh38 |
| NC_000015.9:g.23889441_23889442del , CM000677.1:g.23889441_23889442del | GRCh37 |
| NC_000015.8:g.21440534_21440535del | NCBI36 |
| NG_016776.1:g.8553_8554del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019066.5:c.3449_3450del MANE Select | NP_061939.3:p.Phe1150TrpfsTer4 |
| ENST00000650528.1:c.3449_3450del MANE Select | ENSP00000497810.1:p.Phe1150TrpfsTer4 |
| NM_019066.4:c.3449_3450del | NP_061939.3:p.Phe1150TrpfsTer4 |
| ENST00000532292.2:c.3449_3450del | ENSP00000433433.2:p.Phe1150TrpfsTer4 |