Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32315482_32316529del , CM000675.2:g.32315482_32316529del | GRCh38 |
| NC_000013.10:g.32889619_32890666del , CM000675.1:g.32889619_32890666del | GRCh37 |
| NC_000013.9:g.31787619_31788666del | NCBI36 |
| NG_012772.3:g.5003_6050del , LRG_293:g.5003_6050del | |
| NG_017006.1:g.428_1475del | |
| NG_017006.2:g.3837_4884del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544455.6:c.-40+337_67+2del | ||
| ENST00000380152.7:c.-225_67+2del | ||
| ENST00000544455.5:c.-225_67+2del | ||
| NM_000059.3:c.-225_67+2del , LRG_293t1:c.-225_67+2del | ||
| XM_011535203.1:c.-40+337_67+2del | ||
| XM_011535204.1:c.-225_67+2del | ||
| XM_011535205.1:c.-225_67+2del |