Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046870_88046872del , CM000666.2:g.88046870_88046872del | GRCh38 |
| NC_000004.11:g.88968022_88968024del , CM000666.1:g.88968022_88968024del | GRCh37 |
| NC_000004.10:g.89187046_89187048del | NCBI36 |
| NG_008604.1:g.44203_44205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.1548_1548+2del | ||
| ENST00000237596.6:c.1548_1548+2del | ||
| ENST00000508588.5:c.-199+3413_-199+3415del | ENSP00000427131.1:n.-199+3413_-199+3415del | |
| NM_000297.3:c.1548_1548+2del | ||
| XM_011532028.1:c.1323_1323+2del | ||
| XM_011532029.1:c.828_828+2del | ||
| XM_011532030.1:c.708_708+2del | ||
| XR_244632.2:n.1643_1643+2del | ||
| NR_156488.1:n.1635_1635+2del | ||
| XM_011532028.2:c.1323_1323+2del | ||
| XM_011532030.2:c.708_708+2del | ||
| NM_000297.4:c.1548_1548+2del | ||
| NR_156488.2:n.1647_1647+2del |