Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128842700_128842794del , CM000669.2:g.128842700_128842794del | GRCh38 |
| NC_000007.13:g.128482754_128482848del , CM000669.1:g.128482754_128482848del | GRCh37 |
| NC_000007.12:g.128269990_128270084del | NCBI36 |
| NG_011807.1:g.17272_17366del , LRG_870:g.17272_17366del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.2389+2_2390del | ||
| ENST00000325888.12:c.2389+2_2390del | ||
| ENST00000346177.6:c.2389+2_2390del | ||
| ENST00000388853.3:n.505+2_506del | ||
| NM_001127487.1:c.2389+2_2390del | ||
| NM_001458.4:c.2389+2_2390del , LRG_870t1:c.2389+2_2390del | ||
| NM_001127487.2:c.2389+2_2390del | ||
| NM_001458.5:c.2389+2_2390del |