Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118499_44118512del , CM000682.2:g.44118499_44118512del | GRCh38 |
| NC_000020.10:g.42747139_42747152del , CM000682.1:g.42747139_42747152del | GRCh37 |
| NC_000020.9:g.42180553_42180566del | NCBI36 |
| NG_031867.1:g.74076_74089del , LRG_394:g.74076_74089del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1288+2_1288+15del | ||
| ENST00000372980.3:c.1288+2_1288+15del | ||
| NM_020433.4:c.1288+2_1288+15del , LRG_394t1:c.1288+2_1288+15del | ||
| XM_006723832.2:c.1288+2_1288+15del | ||
| NM_020433.5:c.1288+2_1288+15del |