Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.21595231_21595242del , CM000668.2:g.21595231_21595242del | GRCh38 |
| NC_000006.11:g.21595462_21595473del , CM000668.1:g.21595462_21595473del | GRCh37 |
| NC_000006.10:g.21703441_21703452del | NCBI36 |
| NG_029166.1:g.6491_6502del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003107.3:c.697_708del MANE Select | NP_003098.1:p.Ala233_Ser236del |
| ENST00000244745.4:c.697_708del MANE Select | ENSP00000244745.1:p.Ala233_Ser236del |
| NM_003107.2:c.697_708del | NP_003098.1:p.Ala233_Ser236del |
| ENST00000244745.2:c.697_708del | ENSP00000244745.1:p.Ala233_Ser236del |