Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.86568060_86568081del , CM000678.2:g.86568060_86568081del | GRCh38 |
| NC_000016.9:g.86601666_86601687del , CM000678.1:g.86601666_86601687del | GRCh37 |
| NC_000016.8:g.85159167_85159188del | NCBI36 |
| NG_012025.1:g.5810_5831del | |
| NG_012025.2:g.6232_6253del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005251.3:c.725_746del MANE Select | NP_005242.1:p.Arg242ProfsTer28 |
| ENST00000649859.1:c.725_746del MANE Select | ENSP00000497759.1:p.Arg242ProfsTer28 |
| NM_005251.2:c.725_746del | NP_005242.1:p.Arg242ProfsTer28 |
| ENST00000320354.5:c.725_746del | ENSP00000326371.4:p.Arg242ProfsTer28 |