Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333705del , CM000673.2:g.47333705del | GRCh38 |
| NC_000011.9:g.47355256del , CM000673.1:g.47355256del | GRCh37 |
| NC_000011.8:g.47311832del | NCBI36 |
| NG_007667.1:g.23999del , LRG_386:g.23999del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3043del MANE Select | ENSP00000442795.1:p.Ala1015GlnfsTer5 | |
| ENST00000256993.8:c.3043del | ENSP00000256993.5:p.Ala1015GlnfsTer5 | |
| ENST00000399249.6:c.3043del | ENSP00000382193.2:p.Ala1015GlnfsTer5 | |
| ENST00000545968.5:c.3043del | ENSP00000442795.1:p.Ala1015GlnfsTer5 | |
| NM_000256.3:c.3043del , LRG_386t1:c.3043del MANE Select | NP_000247.2:p.Ala1015GlnfsTer5 | |
| XM_011520117.1:c.3025del | XP_011518419.1:p.Ala1009GlnfsTer5 | |
| XM_011520118.1:c.2962del | XP_011518420.1:p.Ala988GlnfsTer5 |