Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410855del , CM000677.2:g.48410855del | GRCh38 |
| NC_000015.9:g.48703052del , CM000677.1:g.48703052del | GRCh37 |
| NC_000015.8:g.46490344del | NCBI36 |
| NG_008805.2:g.239936del , LRG_778:g.239936del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1561del | ENSP00000453958.2:n.*1561del | |
| ENST00000682158.1:n.2134del | ||
| ENST00000682170.1:n.2934del | ||
| ENST00000682767.1:n.2050del | ||
| ENST00000316623.10:c.*137del MANE Select | ENSP00000325527.5:n.*137del | |
| ENST00000316623.9:c.*137del | ENSP00000325527.5:n.*137del | |
| ENST00000559133.5:c.4122del | ||
| NM_000138.4:c.*137del , LRG_778t1:c.*137del | NP_000129.3:n.*137del | |
| NM_000138.5:c.*137del MANE Select | NP_000129.3:n.*137del |