Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.41745999_41746022del , CM000666.2:g.41745999_41746022del | GRCh38 |
| NC_000004.11:g.41748016_41748039del , CM000666.1:g.41748016_41748039del | GRCh37 |
| NC_000004.10:g.41442773_41442796del | NCBI36 |
| NG_008243.1:g.7957_7980del , LRG_513:g.7957_7980del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226382.4:c.738_761del MANE Select | ENSP00000226382.2:p.Ala247_Ala254del | |
| ENST00000226382.3:c.738_761del | ENSP00000226382.2:p.Ala247_Ala254del | |
| NM_003924.3:c.738_761del , LRG_513t1:c.738_761del | NP_003915.2:p.Ala247_Ala254del | |
| NM_003924.4:c.738_761del MANE Select | NP_003915.2:p.Ala247_Ala254del |