Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767413_28767436del , CM000676.2:g.28767413_28767436del | GRCh38 |
| NC_000014.8:g.29236619_29236642del , CM000676.1:g.29236619_29236642del | GRCh37 |
| NC_000014.7:g.28306370_28306393del | NCBI36 |
| NG_009367.1:g.5333_5356del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.134_157del | ENSP00000516406.1:p.Pro45_His52del | |
| ENST00000313071.7:c.134_157del MANE Select | ENSP00000339004.3:p.Pro45_His52del | |
| ENST00000313071.6:c.134_157del | ENSP00000339004.3:p.Pro45_His52del | |
| NM_005249.4:c.134_157del | NP_005240.3:p.Pro45_His52del | |
| NM_005249.5:c.134_157del MANE Select | NP_005240.3:p.Pro45_His52del |