Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584070_41584071insCTTT , CM000679.2:g.41584070_41584071insCTTT | GRCh38 |
| NC_000017.10:g.39740322_39740323insCTTT , CM000679.1:g.39740322_39740323insCTTT | GRCh37 |
| NC_000017.9:g.36993848_36993849insCTTT | NCBI36 |
| NG_008624.1:g.7826_7827insAAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-149_766-148insAAGA MANE Select | ENSP00000167586.6:n.766-149_766-148insAAGA | |
| ENST00000167586.6:c.766-149_766-148insAAGA | ENSP00000167586.6:n.766-149_766-148insAAGA | |
| ENST00000476662.1:n.216-149_216-148insAAGA | ||
| NM_000526.4:c.766-149_766-148insAAGA | NP_000517.2:n.766-149_766-148insAAGA | |
| NM_000526.5:c.766-149_766-148insAAGA MANE Select | NP_000517.3:n.766-149_766-148insAAGA |