Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1394420_1394426del , CM000667.2:g.1394420_1394426del | GRCh38 |
| NC_000005.9:g.1394535_1394541del , CM000667.1:g.1394535_1394541del | GRCh37 |
| NC_000005.8:g.1447535_1447541del | NCBI36 |
| NG_015885.1:g.56015_56021del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001044.5:c.*321_*327del MANE Select | NP_001035.1:n.*321_*327del |
| ENST00000270349.12:c.*321_*327del MANE Select | ENSP00000270349.9:n.*321_*327del |
| NM_001044.4:c.*321_*327del | NP_001035.1:n.*321_*327del |
| ENST00000270349.11:c.*321_*327del | ENSP00000270349.9:n.*321_*327del |
| ENST00000512002.2:n.565_571del |