Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124745390_124745391del , CM000665.2:g.124745390_124745391del | GRCh38 |
| NC_000003.11:g.124464237_124464238del , CM000665.1:g.124464237_124464238del | GRCh37 |
| NC_000003.10:g.125946927_125946928del | NCBI36 |
| NG_017037.1:g.20025_20026del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000373.4:c.*1306_*1307del MANE Select | NP_000364.1:n.*1306_*1307del |
| ENST00000232607.7:c.*1306_*1307del MANE Select | ENSP00000232607.2:n.*1306_*1307del |
| NM_000373.3:c.*1306_*1307del | NP_000364.1:n.*1306_*1307del |
| NR_033434.1:n.2701_2702del | |
| NR_033434.2:n.2615_2616del | |
| NR_033437.1:n.2954_2955del | |
| NR_033437.2:n.2868_2869del | |
| ENST00000232607.6:c.*1306_*1307del | ENSP00000232607.2:n.*1306_*1307del |
| XR_001740253.2:n.2983_2984del |