Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275110del , CM000672.2:g.80275110del | GRCh38 |
| NC_000010.10:g.82034866del , CM000672.1:g.82034866del | GRCh37 |
| NC_000010.9:g.82024846del | NCBI36 |
| NG_008083.1:g.19569del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.858del MANE Select | ENSP00000361287.3:p.Tyr287ThrfsTer4 | |
| ENST00000372213.7:c.858del | ENSP00000361287.3:p.Tyr287ThrfsTer4 | |
| ENST00000480845.1:n.90del | ||
| ENST00000485270.5:n.370del | ||
| NM_000429.2:c.858del | NP_000420.1:p.Tyr287ThrfsTer4 | |
| XM_005269842.3:c.858del | XP_005269899.1:p.Tyr287ThrfsTer4 | |
| XM_005269843.3:c.735del | XP_005269900.1:p.Tyr246ThrfsTer4 | |
| NM_000429.3:c.858del MANE Select | NP_000420.1:p.Tyr287ThrfsTer4 |