Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48411044del , CM000677.2:g.48411044del | GRCh38 |
| NC_000015.9:g.48703241del , CM000677.1:g.48703241del | GRCh37 |
| NC_000015.8:g.46490533del | NCBI36 |
| NG_008805.2:g.239745del , LRG_778:g.239745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1370del | ENSP00000453958.2:n.*1370del | |
| ENST00000682158.1:n.1943del | ||
| ENST00000682170.1:n.2743del | ||
| ENST00000682767.1:n.1859del | ||
| ENST00000316623.10:c.8562del MANE Select | ENSP00000325527.5:p.Ser2855ValfsTer8 | |
| ENST00000316623.9:c.8562del | ENSP00000325527.5:p.Ser2855ValfsTer8 | |
| ENST00000559133.5:c.3931del | ||
| NM_000138.4:c.8562del , LRG_778t1:c.8562del | NP_000129.3:p.Ser2855ValfsTer8 | |
| NM_000138.5:c.8562del MANE Select | NP_000129.3:p.Ser2855ValfsTer8 |