Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47335208del , CM000673.2:g.47335208del | GRCh38 |
| NC_000011.9:g.47356759del , CM000673.1:g.47356759del | GRCh37 |
| NC_000011.8:g.47313335del | NCBI36 |
| NG_007667.1:g.22495del , LRG_386:g.22495del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2739del MANE Select | ENSP00000442795.1:p.Ser914GlnfsTer10 | |
| ENST00000256993.8:c.2739del | ENSP00000256993.5:p.Ser914GlnfsTer10 | |
| ENST00000399249.6:c.2739del | ENSP00000382193.2:p.Ser914GlnfsTer10 | |
| ENST00000545968.5:c.2739del | ENSP00000442795.1:p.Ser914GlnfsTer10 | |
| NM_000256.3:c.2739del , LRG_386t1:c.2739del MANE Select | NP_000247.2:p.Ser914GlnfsTer10 | |
| XM_011520117.1:c.2721del | XP_011518419.1:p.Ser908GlnfsTer10 | |
| XM_011520118.1:c.2658del | XP_011518420.1:p.Ser887GlnfsTer10 |