Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100882726_100882730del , CM000676.2:g.100882726_100882730del | GRCh38 |
| NC_000014.8:g.101349063_101349067del , CM000676.1:g.101349063_101349067del | GRCh37 |
| NC_000014.7:g.100418816_100418820del | NCBI36 |
| NG_045001.1:g.7119_7123del | |
| NG_045000.5:g.51458_51462del | |
| NG_045000.6:g.51458_51462del | |
| NG_045001.2:g.25994_25998del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.2060_2064del MANE Select | ENSP00000497482.1:p.Lys687SerfsTer7 | |
| ENST00000534062.1:c.2060_2064del | ENSP00000435342.1:p.Lys687SerfsTer7 | |
| NM_001134888.2:c.2060_2064del | NP_001128360.1:p.Lys687SerfsTer7 | |
| NM_001134888.3:c.2060_2064del MANE Select | NP_001128360.1:p.Lys687SerfsTer7 |