Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228098del , CM000679.2:g.66228098del | GRCh38 |
| NC_000017.10:g.64224216del , CM000679.1:g.64224216del | GRCh37 |
| NC_000017.9:g.61654678del | NCBI36 |
| NG_012045.1:g.6341del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.163del MANE Select | ENSP00000205948.6:p.Tyr55MetfsTer7 | |
| ENST00000205948.10:c.163del | ENSP00000205948.6:p.Tyr55MetfsTer7 | |
| ENST00000577982.1:c.163del | ENSP00000464301.1:p.Tyr55MetfsTer7 | |
| ENST00000581797.5:c.-18del | ENSP00000463553.1:n.-18del | |
| NM_000042.2:c.163del | NP_000033.2:p.Tyr55MetfsTer7 | |
| NM_000042.3:c.163del MANE Select | NP_000033.2:p.Tyr55MetfsTer7 |