Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853649_46853650delinsA , CM000685.2:g.46853649_46853650delinsA | GRCh38 |
| NC_000023.10:g.46713084_46713085delinsA , CM000685.1:g.46713084_46713085delinsA | GRCh37 |
| NC_000023.9:g.46598028_46598029delinsA | NCBI36 |
| NG_009107.1:g.21738_21739delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.276_277delinsA MANE Select | ENSP00000218340.3:p.Phe92LeufsTer5 | |
| ENST00000218340.3:c.276_277delinsA | ENSP00000218340.3:p.Phe92LeufsTer5 | |
| NM_006915.2:c.276_277delinsA | NP_008846.2:p.Phe92LeufsTer5 | |
| NM_006915.3:c.276_277delinsA MANE Select | NP_008846.2:p.Phe92LeufsTer5 |