Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199714_27199734del , CM000669.2:g.27199714_27199734del | GRCh38 |
| NC_000007.13:g.27239333_27239353del , CM000669.1:g.27239333_27239353del | GRCh37 |
| NC_000007.12:g.27205858_27205878del | NCBI36 |
| NG_008181.1:g.5383_5403del | |
| NG_008181.2:g.5383_5403del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000522.5:c.354_374del MANE Select | NP_000513.2:p.Ala119_Ala125del |
| ENST00000649031.1:c.354_374del MANE Select | ENSP00000497112.1:p.Ala119_Ala125del |
| NM_000522.4:c.354_374del | NP_000513.2:p.Ala119_Ala125del |
| ENST00000222753.5:c.354_374del | ENSP00000222753.4:p.Ala119_Ala125del |
| XM_011515344.1:c.354_374del | XP_011513646.1:p.Ala119_Ala125del |