Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199688_27199708del , CM000669.2:g.27199688_27199708del | GRCh38 |
| NC_000007.13:g.27239307_27239327del , CM000669.1:g.27239307_27239327del | GRCh37 |
| NC_000007.12:g.27205832_27205852del | NCBI36 |
| NG_008181.1:g.5404_5424del | |
| NG_008181.2:g.5404_5424del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000522.5:c.375_395del MANE Select | NP_000513.2:p.Ala126_Ala132del |
| ENST00000649031.1:c.375_395del MANE Select | ENSP00000497112.1:p.Ala126_Ala132del |
| NM_000522.4:c.375_395del | NP_000513.2:p.Ala126_Ala132del |
| ENST00000222753.5:c.375_395del | ENSP00000222753.4:p.Ala126_Ala132del |
| XM_011515344.1:c.375_395del | XP_011513646.1:p.Ala126_Ala132del |