Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123585_72123586insACACC , CM000679.2:g.72123585_72123586insACACC | GRCh38 |
| NC_000017.10:g.70119726_70119727insACACC , CM000679.1:g.70119726_70119727insACACC | GRCh37 |
| NC_000017.9:g.67631321_67631322insACACC | NCBI36 |
| NG_012490.1:g.7566_7567insACACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.728_729insACACC MANE Select | ENSP00000245479.2:p.Asp244HisfsTer11 | |
| ENST00000245479.2:c.728_729insACACC | ENSP00000245479.2:p.Asp244HisfsTer11 | |
| NM_000346.3:c.728_729insACACC | NP_000337.1:p.Asp244HisfsTer11 | |
| NM_000346.4:c.728_729insACACC MANE Select | NP_000337.1:p.Asp244HisfsTer11 |