Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186680301_186680309del , CM000663.2:g.186680301_186680309del | GRCh38 |
| NC_000001.10:g.186649433_186649441del , CM000663.1:g.186649433_186649441del | GRCh37 |
| NC_000001.9:g.184916056_184916064del | NCBI36 |
| NG_028206.2:g.5123_5131del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367468.10:c.-15_-7del MANE Select | ENSP00000356438.5:n.-15_-7del | |
| ENST00000680451.1:c.-15_-7del | ENSP00000506242.1:n.-15_-7del | |
| ENST00000681605.1:c.-15_-7del | ENSP00000504900.1:n.-15_-7del | |
| ENST00000367468.9:c.-15_-7del | ENSP00000356438.5:n.-15_-7del | |
| ENST00000490885.6:n.119_127del | ||
| ENST00000559800.1:n.119_127del | ||
| NM_000963.3:c.-15_-7del | NP_000954.1:n.-15_-7del | |
| NM_000963.4:c.-15_-7del MANE Select | NP_000954.1:n.-15_-7del |