Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40822316_40822323del , CM000663.2:g.40822316_40822323del | GRCh38 |
| NC_000001.10:g.41287988_41287995del , CM000663.1:g.41287988_41287995del | GRCh37 |
| NC_000001.9:g.41060575_41060582del | NCBI36 |
| NG_008139.1:g.43305_43312del | |
| NG_008139.2:g.43305_43312del | |
| NG_008139.3:g.43530_43537del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004700.3:c.1044_1051del | |
| NM_004700.4:c.1044_1051del | |
| NM_172163.2:c.1044_1051del | |
| NM_172163.3:c.1044_1051del | |
| ENST00000347132.10:c.1044_1051del | |
| ENST00000347132.9:c.1044_1051del | |
| ENST00000443478.3:c.730_737del | |
| ENST00000506017.1:n.363_370del | |
| ENST00000509682.6:c.1044_1051del | |
| XM_011542417.1:c.1044_1051del | |
| XM_011542418.1:c.1044_1051del | |
| XM_011542419.1:c.1044_1051del | |
| XM_017002792.1:c.27_34del | |
| XR_946798.1:n.1050_1057del | |
| XR_946799.1:n.1050_1057del | |
| XR_946800.1:n.1047+2056_1047+2063del |