Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48380197_48380200del , CM000675.2:g.48380197_48380200del | GRCh38 |
| NC_000013.10:g.48954333_48954336del , CM000675.1:g.48954333_48954336del | GRCh37 |
| NC_000013.9:g.47852334_47852337del | NCBI36 |
| NG_009009.1:g.81451_81454del , LRG_517:g.81451_81454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1454_1457del MANE Select | ENSP00000267163.4:p.Ser485TyrfsTer9 | |
| ENST00000650461.1:c.1454_1457del | ENSP00000497193.1:p.Ser485TyrfsTer9 | |
| ENST00000267163.4:c.1454_1457del | ENSP00000267163.4:p.Ser485TyrfsTer9 | |
| NM_000321.2:c.1454_1457del , LRG_517t1:c.1454_1457del | NP_000312.2:p.Ser485TyrfsTer9 | |
| XM_011535171.1:c.1193_1196del | XP_011533473.1:p.Ser398TyrfsTer9 | |
| XM_011535171.2:c.1193_1196del | XP_011533473.1:p.Ser398TyrfsTer9 | |
| NM_000321.3:c.1454_1457del MANE Select | NP_000312.2:p.Ser485TyrfsTer9 |