Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122461861_122461905del , CM000672.2:g.122461861_122461905del | GRCh38 |
| NC_000010.10:g.124221377_124221421del , CM000672.1:g.124221377_124221421del | GRCh37 |
| NC_000010.9:g.124211367_124211411del | NCBI36 |
| NG_011554.1:g.5337_5381del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.209_253del MANE Select | ENSP00000357980.3:p.Ala70_Gly84del | |
| ENST00000648167.1:c.154+3152_154+3196del | ENSP00000498033.1:n.154+3152_154+3196del | |
| ENST00000368984.7:c.209_253del | ENSP00000357980.3:p.Ala70_Gly84del | |
| NM_002775.4:c.209_253del | NP_002766.1:p.Ala70_Gly84del | |
| NM_002775.5:c.209_253del MANE Select | NP_002766.1:p.Ala70_Gly84del |