Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86666953_86666960del , CM000670.2:g.86666953_86666960del | GRCh38 |
| NC_000008.10:g.87679181_87679188del , CM000670.1:g.87679181_87679188del | GRCh37 |
| NC_000008.9:g.87748297_87748304del | NCBI36 |
| NG_016980.1:g.81718_81725del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019098.5:c.819_826del MANE Select | NP_061971.3:p.Arg274ValfsTer13 |
| ENST00000320005.6:c.819_826del MANE Select | ENSP00000316605.5:p.Arg274ValfsTer13 |
| NM_019098.4:c.819_826del | NP_061971.3:p.Arg274ValfsTer13 |
| ENST00000320005.5:c.819_826del | ENSP00000316605.5:p.Arg274ValfsTer13 |
| ENST00000681746.1:c.819_826del | ENSP00000505959.1:p.Arg274ValfsTer13 |
| XM_011517138.1:c.405_412del | XP_011515440.1:p.Arg136ValfsTer13 |
| XM_011517138.2:c.405_412del | XP_011515440.1:p.Arg136ValfsTer13 |