Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24952941_24952942del , CM000670.2:g.24952941_24952942del | GRCh38 |
| NC_000008.10:g.24810454_24810455del , CM000670.1:g.24810454_24810455del | GRCh37 |
| NC_000008.9:g.24866371_24866372del | NCBI36 |
| NG_008492.1:g.8678_8679del , LRG_259:g.8678_8679del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.2:c.1502_1503del MANE Select | ENSP00000482169.2:p.Glu501ValfsTer2 | |
| ENST00000610854.1:c.1502_1503del | ENSP00000482169.1:p.Glu501ValfsTer2 | |
| ENST00000619417.1:c.*367_*368del | ENSP00000483690.1:n.*367_*368del | |
| NM_006158.4:c.1502_1503del , LRG_259t1:c.1502_1503del | NP_006149.2:p.Glu501ValfsTer2 | |
| NM_006158.5:c.1502_1503del MANE Select | NP_006149.2:p.Glu501ValfsTer2 |