Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658428del , CM000681.2:g.12658428del | GRCh38 |
| NC_000019.9:g.12769242del , CM000681.1:g.12769242del | GRCh37 |
| NC_000019.8:g.12630242del | NCBI36 |
| NG_008318.1:g.13351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1109+1del | ||
| ENST00000221363.8:c.1106+1del | ||
| ENST00000456935.6:c.1109+1del | ||
| ENST00000465830.1:n.191del | ||
| ENST00000466794.5:n.1009-83del | ||
| ENST00000495617.1:n.280+304del | ||
| NM_000528.3:c.1109+1del | ||
| NM_001173498.1:c.1106+1del | ||
| XM_005259913.1:c.1112+1del | ||
| XM_011528017.1:c.9-83del | XP_011526319.1:n.9-83del | |
| XM_005259913.2:c.1112+1del | ||
| XM_024451518.1:c.9-83del | XP_024307286.1:n.9-83del | |
| NM_000528.4:c.1109+1del | ||
| NM_001173498.2:c.1106+1del |