Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199679_27199681del , CM000669.2:g.27199679_27199681del | GRCh38 |
| NC_000007.13:g.27239298_27239300del , CM000669.1:g.27239298_27239300del | GRCh37 |
| NC_000007.12:g.27205823_27205825del | NCBI36 |
| NG_008181.1:g.5426_5428del | |
| NG_008181.2:g.5426_5428del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649031.1:c.397_399del MANE Select | ENSP00000497112.1:p.Ala133del | |
| ENST00000222753.5:c.397_399del | ENSP00000222753.4:p.Ala133del | |
| NM_000522.4:c.397_399del | NP_000513.2:p.Ala133del | |
| XM_011515344.1:c.397_399del | XP_011513646.1:p.Ala133del | |
| NM_000522.5:c.397_399del MANE Select | NP_000513.2:p.Ala133del |