Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410599del , CM000677.2:g.48410599del | GRCh38 |
| NC_000015.9:g.48702796del , CM000677.1:g.48702796del | GRCh37 |
| NC_000015.8:g.46490088del | NCBI36 |
| NG_008805.2:g.240190del , LRG_778:g.240190del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1815del | ENSP00000453958.2:n.*1815del | |
| ENST00000682158.1:n.2388del | ||
| ENST00000682170.1:n.3188del | ||
| ENST00000682767.1:n.2304del | ||
| ENST00000316623.10:c.*391del MANE Select | ENSP00000325527.5:n.*391del | |
| ENST00000316623.9:c.*391del | ENSP00000325527.5:n.*391del | |
| ENST00000559133.5:c.4376del | ||
| NM_000138.4:c.*391del , LRG_778t1:c.*391del | NP_000129.3:n.*391del | |
| NM_000138.5:c.*391del MANE Select | NP_000129.3:n.*391del |