Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436080_67436082delinsAGG , CM000678.2:g.67436080_67436082delinsAGG | GRCh38 |
| NC_000016.9:g.67469983_67469985delinsAGG , CM000678.1:g.67469983_67469985delinsAGG | GRCh37 |
| NC_000016.8:g.66027484_66027486delinsAGG | NCBI36 |
| NG_011482.1:g.50105_50107delinsCCT | |
| NG_016549.1:g.9948_9950delinsAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.602_604delinsAGG MANE Select | ENSP00000316786.5:p.Lys201= | |
| ENST00000326152.5:c.602_604delinsAGG | ENSP00000316786.5:p.Lys201= | |
| ENST00000566606.1:c.580_582delinsAGG | ENSP00000473429.1:n.580_582delinsAGG | |
| ENST00000567684.2:n.465_467delinsAGG | ||
| NM_000196.3:c.602_604delinsAGG | NP_000187.3:p.Lys201= | |
| NM_000196.4:c.602_604delinsAGG MANE Select | NP_000187.3:p.Lys201= |