Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40099250_40099251insGG , CM000679.2:g.40099250_40099251insGG | GRCh38 |
| NC_000017.10:g.38255503_38255504insGG , CM000679.1:g.38255503_38255504insGG | GRCh37 |
| NC_000017.9:g.35509029_35509030insGG | NCBI36 |
| NG_033084.1:g.6475_6476insCC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000246672.4:c.31+813_31+814insCC MANE Select | ENSP00000246672.3:n.31+813_31+814insCC | |
| ENST00000246672.3:c.31+813_31+814insCC | ENSP00000246672.3:n.31+813_31+814insCC | |
| NM_021724.4:c.31+813_31+814insCC | NP_068370.1:n.31+813_31+814insCC | |
| NM_021724.5:c.31+813_31+814insCC MANE Select | NP_068370.1:n.31+813_31+814insCC |