Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87745172_87745176del , CM000672.2:g.87745172_87745176del | GRCh38 |
| NC_000010.10:g.89504929_89504933del , CM000672.1:g.89504929_89504933del | GRCh37 |
| NC_000010.9:g.89494909_89494913del | NCBI36 |
| NG_012150.1:g.90454_90458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456849.2:c.1662_1666del MANE Select | ENSP00000406157.1:p.Phe555SerfsTer15 | |
| ENST00000361175.8:c.1647_1651del | ENSP00000354436.4:p.Phe550SerfsTer15 | |
| ENST00000456849.1:c.1662_1666del | ENSP00000406157.1:p.Phe555SerfsTer15 | |
| NM_001015880.1:c.1662_1666del | NP_001015880.1:p.Phe555SerfsTer15 | |
| NM_004670.3:c.1647_1651del | NP_004661.2:p.Phe550SerfsTer15 | |
| NM_001015880.2:c.1662_1666del MANE Select | NP_001015880.1:p.Phe555SerfsTer15 | |
| NM_004670.4:c.1647_1651del | NP_004661.2:p.Phe550SerfsTer15 |