Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52487956_52488068del , CM000674.2:g.52487956_52488068del | GRCh38 |
| NC_000012.11:g.52881740_52881852del , CM000674.1:g.52881740_52881852del | GRCh37 |
| NC_000012.10:g.51168007_51168119del | NCBI36 |
| NG_008298.1:g.10330_10442del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1459+1_1460-1del MANE Select | ENSP00000369317.3:n.1459+1_1460-1del | |
| ENST00000330722.6:c.1459+1_1460-1del | ENSP00000369317.3:n.1459+1_1460-1del | |
| NM_005554.3:c.1459+1_1460-1del | NP_005545.1:n.1459+1_1460-1del | |
| NM_005554.4:c.1459+1_1460-1del MANE Select | NP_005545.1:n.1459+1_1460-1del |