Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041370_94041375del , CM000663.2:g.94041370_94041375del | GRCh38 |
| NC_000001.10:g.94506926_94506931del , CM000663.1:g.94506926_94506931del | GRCh37 |
| NC_000001.9:g.94279514_94279519del | NCBI36 |
| NG_009073.1:g.84777_84782del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3358_3363del MANE Select | ENSP00000359245.3:p.Met1120_Asp1121del | |
| ENST00000370225.3:c.3358_3363del | ENSP00000359245.3:p.Met1120_Asp1121del | |
| ENST00000536513.5:c.-64-1284_-64-1279del | ENSP00000439707.2:n.-64-1284_-64-1279del | |
| NM_000350.2:c.3358_3363del | NP_000341.2:p.Met1120_Asp1121del | |
| NM_000350.3:c.3358_3363del MANE Select | NP_000341.2:p.Met1120_Asp1121del |