Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173571_173577del , CM000678.2:g.173571_173577del | GRCh38 |
| NC_000016.9:g.223570_223576del , CM000678.1:g.223570_223576del | GRCh37 |
| NC_000016.8:g.163570_163576del | NCBI36 |
| NG_000006.1:g.34434_34440del | |
| NG_059186.1:g.1921_1927del | |
| NG_059271.1:g.5725_5731del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.400_406del MANE Select | ENSP00000251595.6:p.Ser134CysfsTer2 | |
| ENST00000251595.10:c.400_406del | ENSP00000251595.6:p.Ser134CysfsTer2 | |
| ENST00000397806.1:c.304_310del | ENSP00000380908.1:p.Ser102CysfsTer2 | |
| ENST00000482565.1:n.536_542del | ||
| NM_000517.4:c.400_406del | NP_000508.1:p.Ser134CysfsTer2 | |
| NM_000517.6:c.400_406del MANE Select | NP_000508.1:p.Ser134CysfsTer2 |