Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584071_41584072insCTC , CM000679.2:g.41584071_41584072insCTC | GRCh38 |
| NC_000017.10:g.39740323_39740324insCTC , CM000679.1:g.39740323_39740324insCTC | GRCh37 |
| NC_000017.9:g.36993849_36993850insCTC | NCBI36 |
| NG_008624.1:g.7824_7825insGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-151_766-150insGAG MANE Select | ENSP00000167586.6:n.766-151_766-150insGAG | |
| ENST00000167586.6:c.766-151_766-150insGAG | ENSP00000167586.6:n.766-151_766-150insGAG | |
| ENST00000476662.1:n.216-151_216-150insGAG | ||
| NM_000526.4:c.766-151_766-150insGAG | NP_000517.2:n.766-151_766-150insGAG | |
| NM_000526.5:c.766-151_766-150insGAG MANE Select | NP_000517.3:n.766-151_766-150insGAG |