Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2251812_2251813insCCTGCGCCCCT , CM000681.2:g.2251812_2251813insCCTGCGCCCCT | GRCh38 |
| NC_000019.9:g.2251811_2251812insCCTGCGCCCCT , CM000681.1:g.2251811_2251812insCCTGCGCCCCT | GRCh37 |
| NC_000019.8:g.2202811_2202812insCCTGCGCCCCT | NCBI36 |
| NG_012190.1:g.7699_7700insCCTGCGCCCCT | |
| NG_032853.1:g.9612_9613insGGGGCGCAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221496.5:c.1538_1539insCCTGCGCCCCT MANE Select | ENSP00000221496.2:p.Met513IlefsTer? | |
| ENST00000221496.4:c.1538_1539insCCTGCGCCCCT | ENSP00000221496.2:p.Met513IlefsTer? | |
| NM_000479.3:c.1538_1539insCCTGCGCCCCT | NP_000470.2:p.Met513IlefsTer? | |
| NM_000479.4:c.1538_1539insCCTGCGCCCCT | NP_000470.2:p.Met513IlefsTer? | |
| NM_000479.5:c.1538_1539insCCTGCGCCCCT MANE Select | NP_000470.3:p.Met513IlefsTer? |