Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118168_78118171del , CM000685.2:g.78118168_78118171del | GRCh38 |
| NC_000023.10:g.77373665_77373668del , CM000685.1:g.77373665_77373668del | GRCh37 |
| NC_000023.9:g.77260321_77260324del | NCBI36 |
| NG_008862.1:g.19000_19003del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.639_641+1del | ||
| ENST00000644362.1:c.555_557+1del | ||
| ENST00000373316.4:c.639_641+1del | ||
| ENST00000491291.1:n.631_633+1del | ||
| NM_000291.3:c.639_641+1del | ||
| NM_000291.4:c.639_641+1del |