Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24800016_24800017insAACCAGA , CM000666.2:g.24800016_24800017insAACCAGA | GRCh38 |
| NC_000004.11:g.24801638_24801639insAACCAGA , CM000666.1:g.24801638_24801639insAACCAGA | GRCh37 |
| NC_000004.10:g.24410736_24410737insAACCAGA | NCBI36 |
| NG_012213.1:g.9554_9555insAACCAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.495_496insAACCAGA MANE Select | ENSP00000371554.3:p.Ser166AsnfsTer? | |
| ENST00000382120.3:c.495_496insAACCAGA | ENSP00000371554.3:p.Ser166AsnfsTer? | |
| NM_003102.2:c.495_496insAACCAGA | NP_003093.2:p.Ser166AsnfsTer? | |
| XR_427488.1:n.685_686insAACCAGA | ||
| NM_003102.3:c.495_496insAACCAGA | NP_003093.2:p.Ser166AsnfsTer? | |
| NM_003102.4:c.495_496insAACCAGA MANE Select | NP_003093.2:p.Ser166AsnfsTer? |