Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1222985_1226647del , CM000681.2:g.1222985_1226647del | GRCh38 |
| NC_000019.9:g.1222984_1226646del , CM000681.1:g.1222984_1226646del | GRCh37 |
| NC_000019.8:g.1173984_1177646del | NCBI36 |
| NG_007460.2:g.38579_42241del , LRG_319:g.38579_42241del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000455.4:c.921_1302del , LRG_319t1:c.921_1302del | |
| NM_000455.5:c.921_1302del | |
| ENST00000326873.11:c.921_1302del | |
| ENST00000326873.12:c.921_1302del | |
| ENST00000585465.3:c.921_*2903del | |
| ENST00000585748.3:c.549_930del | |
| ENST00000585851.2:c.747_1128del | |
| ENST00000586243.5:c.921_1299del | |
| ENST00000589152.5:n.1619_2000del | |
| XM_005259617.1:c.921_1297del | |
| XM_005259617.3:c.921_1297del | |
| XM_011528209.1:c.699_1075del | |
| XM_011528209.2:c.699_1075del | |
| XR_001753738.2:n.1727_2108del | |
| XR_001753740.2:n.1697_2078del |