Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21003241del , CM000664.2:g.21003241del | GRCh38 |
| NC_000002.11:g.21226113del , CM000664.1:g.21226113del | GRCh37 |
| NC_000002.10:g.21079618del | NCBI36 |
| NG_011793.1:g.45833del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000384.3:c.12181del MANE Select | NP_000375.3:p.Glu4061ArgfsTer7 |
| ENST00000233242.5:c.12181del MANE Select | ENSP00000233242.1:p.Glu4061ArgfsTer7 |
| NM_000384.2:c.12181del | NP_000375.2:p.Glu4061ArgfsTer7 |
| ENST00000616098.4:c.12181del | ENSP00000477990.1:p.Glu4061ArgfsTer7 |
| XM_011532809.1:c.5870-3968del | XP_011531111.1:n.5870-3968del |