Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27199682_27199702del , CM000669.2:g.27199682_27199702del | GRCh38 |
| NC_000007.13:g.27239301_27239321del , CM000669.1:g.27239301_27239321del | GRCh37 |
| NC_000007.12:g.27205826_27205846del | NCBI36 |
| NG_008181.1:g.5407_5427del | |
| NG_008181.2:g.5407_5427del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000522.5:c.378_398del MANE Select | NP_000513.2:p.Ala127_Ala133del |
| ENST00000649031.1:c.378_398del MANE Select | ENSP00000497112.1:p.Ala127_Ala133del |
| NM_000522.4:c.378_398del | NP_000513.2:p.Ala127_Ala133del |
| ENST00000222753.5:c.378_398del | ENSP00000222753.4:p.Ala127_Ala133del |
| XM_011515344.1:c.378_398del | XP_011513646.1:p.Ala127_Ala133del |