Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1218419_1226649del , CM000681.2:g.1218419_1226649del | GRCh38 |
| NC_000019.9:g.1218418_1226648del , CM000681.1:g.1218418_1226648del | GRCh37 |
| NC_000019.8:g.1169418_1177648del | NCBI36 |
| NG_007460.2:g.34013_42243del , LRG_319:g.34013_42243del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585465.3:c.293_*2905del | ||
| ENST00000585748.3:c.-80_*2del | ||
| ENST00000585851.2:c.291-1954_*2del | ||
| ENST00000326873.12:c.293_*2del | ||
| ENST00000326873.11:c.293_*2del | ||
| ENST00000586243.5:c.293_*2del | ||
| ENST00000589152.5:n.383_2002del | ||
| NM_000455.4:c.293_*2del , LRG_319t1:c.293_*2del | ||
| XM_005259617.1:c.293_1299del | ||
| XM_011528209.1:c.71_1077del | ||
| XM_005259617.3:c.293_1299del | ||
| XM_011528209.2:c.71_1077del | ||
| XR_001753738.2:n.918_2110del | ||
| XR_001753740.2:n.918_2080del | ||
| NM_000455.5:c.293_*2del |