Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4860307_4860316delinsCCCCGAGAAG , CM000666.2:g.4860307_4860316delinsCCCCGAGAAG | GRCh38 |
| NC_000004.11:g.4862034_4862043delinsCCCCGAGAAG , CM000666.1:g.4862034_4862043delinsCCCCGAGAAG | GRCh37 |
| NC_000004.10:g.4912935_4912944delinsCCCCGAGAAG | NCBI36 |
| NG_008121.1:g.5643_5652delinsCCCCGAGAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.408_417delinsCCCCGAGAAG MANE Select | ENSP00000372170.4:p.Ser136= | |
| ENST00000382723.4:c.408_417delinsCCCCGAGAAG | ENSP00000372170.4:p.Ser136= | |
| NM_002448.3:c.408_417delinsCCCCGAGAAG MANE Select | NP_002439.2:p.Ser136= |