Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66227934_66227936del , CM000679.2:g.66227934_66227936del | GRCh38 |
| NC_000017.10:g.64224052_64224054del , CM000679.1:g.64224052_64224054del | GRCh37 |
| NC_000017.9:g.61654514_61654516del | NCBI36 |
| NG_012045.1:g.6503_6505del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.241+84_241+86del MANE Select | ENSP00000205948.6:n.241+84_241+86del | |
| ENST00000205948.10:c.241+84_241+86del | ENSP00000205948.6:n.241+84_241+86del | |
| ENST00000577982.1:c.241+84_241+86del | ENSP00000464301.1:n.241+84_241+86del | |
| ENST00000581797.5:c.61+84_61+86del | ENSP00000463553.1:n.61+84_61+86del | |
| NM_000042.2:c.241+84_241+86del | NP_000033.2:n.241+84_241+86del | |
| NM_000042.3:c.241+84_241+86del MANE Select | NP_000033.2:n.241+84_241+86del |