Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153736401_153736403del , CM000685.2:g.153736401_153736403del | GRCh38 |
| NC_000023.10:g.153001855_153001857del , CM000685.1:g.153001855_153001857del | GRCh37 |
| NC_000023.9:g.152655049_152655051del | NCBI36 |
| NG_009022.2:g.16534_16536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1281_1283del MANE Select | ENSP00000218104.3:p.Glu427del | |
| ENST00000218104.5:c.1281_1283del | ENSP00000218104.3:p.Glu427del | |
| ENST00000443684.2:n.284_286del | ||
| NM_000033.3:c.1281_1283del | NP_000024.2:p.Glu427del | |
| XR_938507.1:n.1697_1699del | ||
| XR_938507.2:n.1697_1699del | ||
| NM_000033.4:c.1281_1283del MANE Select | NP_000024.2:p.Glu427del |