Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739508_120739509del , CM000674.2:g.120739508_120739509del | GRCh38 |
| NC_000012.11:g.121177311_121177312del , CM000674.1:g.121177311_121177312del | GRCh37 |
| NC_000012.10:g.119661694_119661695del | NCBI36 |
| NG_007991.1:g.18741_18742del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.*60_*61del MANE Select | ENSP00000242592.4:n.*60_*61del | |
| ENST00000242592.8:c.*60_*61del | ENSP00000242592.4:n.*60_*61del | |
| ENST00000411593.2:c.*60_*61del | ENSP00000401045.2:n.*60_*61del | |
| NM_000017.3:c.*60_*61del | NP_000008.1:n.*60_*61del | |
| NM_001302554.1:c.*60_*61del | NP_001289483.1:n.*60_*61del | |
| NM_000017.4:c.*60_*61del MANE Select | NP_000008.1:n.*60_*61del | |
| NM_001302554.2:c.*60_*61del | NP_001289483.1:n.*60_*61del |