Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31080186del , CM000680.2:g.31080186del | GRCh38 |
| NC_000018.9:g.28660152del , CM000680.1:g.28660152del | GRCh37 |
| NC_000018.8:g.26914150del | NCBI36 |
| NG_008208.2:g.27240del , LRG_400:g.27240del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682357.1:c.1001del | ENSP00000507826.1:p.Thr334MetfsTer4 | |
| ENST00000251081.8:c.1430del | ENSP00000251081.6:p.Thr477MetfsTer4 | |
| ENST00000280904.11:c.1430del MANE Select | ENSP00000280904.6:p.Thr477MetfsTer4 | |
| ENST00000648081.1:c.1001del | ENSP00000497441.1:p.Thr334MetfsTer4 | |
| ENST00000251081.6:c.1430del | ENSP00000251081.6:p.Thr477MetfsTer4 | |
| ENST00000280904.10:c.1430del | ENSP00000280904.6:p.Thr477MetfsTer4 | |
| NM_004949.4:c.1430del | NP_004940.1:p.Thr477MetfsTer4 | |
| NM_024422.4:c.1430del | NP_077740.1:p.Thr477MetfsTer4 | |
| XM_005258206.3:c.1001del | XP_005258263.1:p.Thr334MetfsTer4 | |
| XM_005258206.4:c.1001del | XP_005258263.1:p.Thr334MetfsTer4 | |
| NM_004949.5:c.1430del | NP_004940.1:p.Thr477MetfsTer4 | |
| NM_024422.6:c.1430del MANE Select | NP_077740.1:p.Thr477MetfsTer4 |