Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519074_92519244del , CM000669.2:g.92519074_92519244del | GRCh38 |
| NC_000007.13:g.92148388_92148558del , CM000669.1:g.92148388_92148558del | GRCh37 |
| NC_000007.12:g.91986324_91986494del | NCBI36 |
| NG_008341.1:g.14294_14464del | |
| NG_008341.2:g.14294_14464del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.274-160_284del | ||
| ENST00000248633.8:c.274-160_284del | ||
| ENST00000428214.5:c.274-160_284del | ||
| ENST00000438045.5:c.273+2864_273+3034del | ENSP00000410438.1:n.273+2864_273+3034del | |
| ENST00000484913.5:n.278-160_288del | ||
| NM_000466.2:c.274-160_284del | ||
| NM_001282677.1:c.274-160_284del | ||
| NM_001282678.1:c.-386-160_-376del | ||
| XR_242246.3:n.370-160_380del | ||
| XR_242246.5:n.321-160_331del | ||
| NM_000466.3:c.274-160_284del | ||
| NM_001282677.2:c.274-160_284del | ||
| NM_001282678.2:c.-386-160_-376del |