Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313989_30313990del , CM000672.2:g.30313989_30313990del | GRCh38 |
| NC_000010.10:g.30602918_30602919del , CM000672.1:g.30602918_30602919del | GRCh37 |
| NC_000010.9:g.30642924_30642925del | NCBI36 |
| NG_028096.1:g.40350_40351del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-18_1387-17del MANE Select | ENSP00000263063.3:n.1387-18_1387-17del | |
| ENST00000263063.8:c.1387-18_1387-17del | ENSP00000263063.3:n.1387-18_1387-17del | |
| ENST00000488290.5:n.3142-18_3142-17del | ||
| NM_018109.3:c.1387-18_1387-17del | NP_060579.3:n.1387-18_1387-17del | |
| NM_018109.4:c.1387-18_1387-17del MANE Select | NP_060579.3:n.1387-18_1387-17del |