Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045579_48045581del , CM000675.2:g.48045579_48045581del | GRCh38 |
| NC_000013.10:g.48619715_48619717del , CM000675.1:g.48619715_48619717del | GRCh37 |
| NC_000013.9:g.47517716_47517718del | NCBI36 |
| NG_047021.1:g.13013_13015del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.356-81_356-79del MANE Select | ENSP00000258662.1:n.356-81_356-79del | |
| ENST00000258662.2:c.356-81_356-79del | ENSP00000258662.1:n.356-81_356-79del | |
| NM_018283.2:c.356-81_356-79del | NP_060753.1:n.356-81_356-79del | |
| NM_018283.3:c.356-81_356-79del | NP_060753.1:n.356-81_356-79del | |
| NR_136687.1:n.536-81_536-79del | ||
| NR_136688.1:n.536-81_536-79del | ||
| NM_018283.4:c.356-81_356-79del MANE Select | NP_060753.1:n.356-81_356-79del | |
| NR_136687.2:n.377-81_377-79del | ||
| NR_136688.2:n.377-81_377-79del |