Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22182776_22182783del , CM000680.2:g.22182776_22182783del | GRCh38 |
| NC_000018.9:g.19762737_19762744del , CM000680.1:g.19762737_19762744del | GRCh37 |
| NC_000018.8:g.18016735_18016742del | NCBI36 |
| NG_032677.1:g.18334_18341del | |
| NG_032677.2:g.18340_18347del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269216.10:c.1448_1455del MANE Select | ENSP00000269216.3:p.Met483ArgfsTer11 | |
| ENST00000269216.7:c.1448_1455del | ENSP00000269216.3:p.Met483ArgfsTer11 | |
| ENST00000581694.1:c.1448_1455del | ENSP00000462313.1:p.Met483ArgfsTer11 | |
| NM_005257.5:c.1448_1455del | NP_005248.2:p.Met483ArgfsTer11 | |
| NM_005257.6:c.1448_1455del MANE Select | NP_005248.2:p.Met483ArgfsTer11 |