Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399304del , CM000685.2:g.29399304del | GRCh38 |
| NC_000023.10:g.29417421del , CM000685.1:g.29417421del | GRCh37 |
| NC_000023.9:g.29327342del | NCBI36 |
| NG_008292.1:g.816741del | |
| NG_008292.2:g.816741del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378993.6:c.699del MANE Select | ENSP00000368278.1:p.Thr234GlnfsTer4 | |
| ENST00000378993.5:c.699del | ENSP00000368278.1:p.Thr234GlnfsTer4 | |
| NM_014271.3:c.699del | NP_055086.1:p.Thr234GlnfsTer4 | |
| XM_005274441.1:c.699del | XP_005274498.1:p.Thr234GlnfsTer4 | |
| XM_011545445.1:c.699del | XP_011543747.1:p.Thr234GlnfsTer4 | |
| XM_017029240.1:c.699del | XP_016884729.1:p.Thr234GlnfsTer4 | |
| XM_017029241.1:c.321del | XP_016884730.1:p.Thr108GlnfsTer4 | |
| NM_014271.4:c.699del MANE Select | NP_055086.1:p.Thr234GlnfsTer4 |