Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.23644787del , CM000677.2:g.23644787del | GRCh38 |
| NC_000015.9:g.23889934del , CM000677.1:g.23889934del | GRCh37 |
| NC_000015.8:g.21441027del | NCBI36 |
| NG_016776.1:g.8062del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650528.1:c.2958del MANE Select | ENSP00000497810.1:p.Ser987AlafsTer5 | |
| ENST00000532292.2:c.2958del | ENSP00000433433.2:p.Ser987AlafsTer5 | |
| NM_019066.4:c.2958del | NP_061939.3:p.Ser987AlafsTer5 | |
| NM_019066.5:c.2958del MANE Select | NP_061939.3:p.Ser987AlafsTer5 |