Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532602_129532613del , CM000665.2:g.129532602_129532613del | GRCh38 |
| NC_000003.11:g.129251445_129251456del , CM000665.1:g.129251445_129251456del | GRCh37 |
| NC_000003.10:g.130734135_130734146del | NCBI36 |
| NG_009115.1:g.8964_8975del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296271.4:c.766_777del MANE Select | ENSP00000296271.3:p.Ile256_Ile259del | |
| ENST00000296271.3:c.766_777del | ENSP00000296271.3:p.Ile256_Ile259del | |
| NM_000539.3:c.766_777del MANE Select | NP_000530.1:p.Ile256_Ile259del |