Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75008987_75008988del , CM000676.2:g.75008987_75008988del | GRCh38 |
| NC_000014.8:g.75475690_75475691del , CM000676.1:g.75475690_75475691del | GRCh37 |
| NC_000014.7:g.74545443_74545444del | NCBI36 |
| NG_013333.1:g.11079_11080del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.899-44_899-43del MANE Select | ENSP00000266126.5:n.899-44_899-43del | |
| ENST00000266126.9:c.899-44_899-43del | ENSP00000266126.5:n.899-44_899-43del | |
| ENST00000556668.1:n.479-44_479-43del | ||
| NM_014239.3:c.899-44_899-43del | NP_055054.1:n.899-44_899-43del | |
| NM_014239.4:c.899-44_899-43del MANE Select | NP_055054.1:n.899-44_899-43del |