Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1220374_1226648del , CM000681.2:g.1220374_1226648del | GRCh38 |
| NC_000019.9:g.1220373_1226647del , CM000681.1:g.1220373_1226647del | GRCh37 |
| NC_000019.8:g.1171373_1177647del | NCBI36 |
| NG_007460.2:g.35968_42242del , LRG_319:g.35968_42242del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000455.4:c.466_*1del , LRG_319t1:c.466_*1del | |
| NM_000455.5:c.466_*1del | |
| ENST00000326873.11:c.466_*1del | |
| ENST00000326873.12:c.466_*1del | |
| ENST00000585465.3:c.466_*2904del | |
| ENST00000585748.3:c.94_*1del | |
| ENST00000585851.2:c.292_*1del | |
| ENST00000586243.5:c.466_*1del | |
| ENST00000589152.5:n.556_2001del | |
| XM_005259617.1:c.466_1298del | |
| XM_005259617.3:c.466_1298del | |
| XM_011528209.1:c.244_1076del | |
| XM_011528209.2:c.244_1076del | |
| XR_001753738.2:n.1091_2109del | |
| XR_001753740.2:n.1091_2079del |