Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9126911_9126913delinsGAA , CM000681.2:g.9126911_9126913delinsGAA | GRCh38 |
| NC_000019.9:g.9237587_9237589delinsGAA , CM000681.1:g.9237587_9237589delinsGAA | GRCh37 |
| NC_000019.8:g.9098587_9098589delinsGAA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305444.2:c.38_40delinsTTC MANE Select | ENSP00000302867.2:p.Phe13= | |
| NM_001001958.1:c.38_40delinsTTC MANE Select | NP_001001958.1:p.Phe13= |