| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965519del , CM000670.2:g.37965519del | GRCh38 |
| NC_000008.10:g.37823037del , CM000670.1:g.37823037del | GRCh37 |
| NC_000008.9:g.37942194del | NCBI36 |
| NG_011936.1:g.6153del |
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.956del MANE Select | NP_000016.1:p.Gly319AlafsTer4 |
| ENST00000345060.5:c.956del MANE Select | ENSP00000343782.3:p.Gly319AlafsTer4 |
| NM_000025.2:c.956del | NP_000016.1:p.Gly319AlafsTer4 |
| ENST00000345060.4:c.956del | ENSP00000343782.3:p.Gly319AlafsTer4 |
| ENST00000520341.1:n.231del | |
| ENST00000520341.2:n.1084del | |
| ENST00000614635.1:c.956del | ENSP00000480325.1:p.Gly319AlafsTer4 |
| ENST00000647937.1:c.440del | ENSP00000497740.1:p.Gly147AlafsTer4 |