Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176947_176948insGAA , CM000678.2:g.176947_176948insGAA | GRCh38 |
| NC_000016.9:g.226946_226947insGAA , CM000678.1:g.226946_226947insGAA | GRCh37 |
| NC_000016.8:g.166946_166947insGAA | NCBI36 |
| NG_000006.1:g.37810_37811insGAA | |
| NG_059186.1:g.5297_5298insGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.114_115insGAA MANE Select | ENSP00000322421.5:p.Pro38_Thr39insGlu | |
| ENST00000397797.1:c.18_19insGAA | ENSP00000380899.1:p.Pro6_Thr7insGlu | |
| ENST00000472694.1:n.250_251insGAA | ||
| ENST00000487791.1:n.83_84insGAA | ||
| NM_000558.4:c.114_115insGAA | NP_000549.1:p.Pro38_Thr39insGlu | |
| NM_000558.5:c.114_115insGAA MANE Select | NP_000549.1:p.Pro38_Thr39insGlu |