Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220373_1226644del , CM000681.2:g.1220373_1226644del | GRCh38 |
| NC_000019.9:g.1220372_1226643del , CM000681.1:g.1220372_1226643del | GRCh37 |
| NC_000019.8:g.1171372_1177643del | NCBI36 |
| NG_007460.2:g.35967_42238del , LRG_319:g.35967_42238del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000455.4:c.465_1299del , LRG_319t1:c.465_1299del | |
| NM_000455.5:c.465_1299del | |
| ENST00000326873.11:c.465_1299del | |
| ENST00000326873.12:c.465_1299del | |
| ENST00000585465.3:c.465_*2900del | |
| ENST00000585748.3:c.93_927del | |
| ENST00000585851.2:c.291_1125del | |
| ENST00000586243.5:c.465_1296del | |
| ENST00000589152.5:n.555_1997del | |
| XM_005259617.1:c.465_1294del | |
| XM_005259617.3:c.465_1294del | |
| XM_011528209.1:c.243_1072del | |
| XM_011528209.2:c.243_1072del | |
| XR_001753738.2:n.1090_2105del | |
| XR_001753740.2:n.1090_2075del |