Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154193470_154193611del , CM000685.2:g.154193470_154193611del | GRCh38 |
| NC_000023.10:g.153458961_153459102del , CM000685.1:g.153458961_153459102del | GRCh37 |
| NG_011606.1:g.15877_16018del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595290.6:c.807_948del MANE Select | ENSP00000472316.1:p.Met269IlefsTer10 | |
| ENST00000595290.5:c.807_948del | ENSP00000472316.1:p.Met269IlefsTer10 | |
| ENST00000596998.2:c.382+12_382+153del | ||
| NM_000513.2:c.807_948del MANE Select | NP_000504.1:p.Met269IlefsTer10 |