Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215674651_215674657del , CM000663.2:g.215674651_215674657del | GRCh38 |
| NC_000001.10:g.215847993_215847999del , CM000663.1:g.215847993_215847999del | GRCh37 |
| NC_000001.9:g.213914616_213914622del | NCBI36 |
| NG_009497.1:g.753743_753749del | |
| NG_009497.2:g.753795_753801del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.13257_13263del MANE Select | ENSP00000305941.3:p.Phe4419LeufsTer2 | |
| ENST00000674083.1:c.13257_13263del | ENSP00000501296.1:p.Phe4419LeufsTer2 | |
| ENST00000307340.7:c.13257_13263del | ENSP00000305941.3:p.Phe4419LeufsTer2 | |
| NM_206933.2:c.13257_13263del | NP_996816.2:p.Phe4419LeufsTer2 | |
| NM_206933.3:c.13257_13263del | NP_996816.2:p.Phe4419LeufsTer2 | |
| NM_206933.4:c.13257_13263del MANE Select | NP_996816.3:p.Phe4419LeufsTer2 |