Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404669_42404670del , CM000679.2:g.42404669_42404670del | GRCh38 |
| NC_000017.10:g.40556687_40556688del , CM000679.1:g.40556687_40556688del | GRCh37 |
| NC_000017.9:g.37810213_37810214del | NCBI36 |
| NG_015845.1:g.23652_23653del | |
| NG_015845.2:g.23652_23653del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*18_*19del MANE Select | ENSP00000349541.4:n.*18_*19del | |
| ENST00000357037.5:c.*18_*19del | ENSP00000349541.4:n.*18_*19del | |
| NM_012232.5:c.*18_*19del | NP_036364.2:n.*18_*19del | |
| NM_012232.6:c.*18_*19del MANE Select | NP_036364.2:n.*18_*19del |