Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124119_72124135del , CM000679.2:g.72124119_72124135del | GRCh38 |
| NC_000017.10:g.70120260_70120276del , CM000679.1:g.70120260_70120276del | GRCh37 |
| NC_000017.9:g.67631855_67631871del | NCBI36 |
| NG_012490.1:g.8100_8116del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000245479.3:c.1262_1278del MANE Select | ENSP00000245479.2:p.Ser421ThrfsTer? | |
| ENST00000245479.2:c.1262_1278del | ENSP00000245479.2:p.Ser421ThrfsTer? | |
| NM_000346.3:c.1262_1278del | NP_000337.1:p.Ser421ThrfsTer? | |
| NM_000346.4:c.1262_1278del MANE Select | NP_000337.1:p.Ser421ThrfsTer? |