Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767404_28767419delinsGCCACCACCCCCAGCA , CM000676.2:g.28767404_28767419delinsGCCACCACCCCCAGCA | GRCh38 |
| NC_000014.8:g.29236610_29236625delinsGCCACCACCCCCAGCA , CM000676.1:g.29236610_29236625delinsGCCACCACCCCCAGCA | GRCh37 |
| NC_000014.7:g.28306361_28306376delinsGCCACCACCCCCAGCA | NCBI36 |
| NG_009367.1:g.5324_5339delinsGCCACCACCCCCAGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.125_140delinsGCCACCACCCCCAGCA | ENSP00000516406.1:p.Ser42= | |
| ENST00000313071.7:c.125_140delinsGCCACCACCCCCAGCA MANE Select | ENSP00000339004.3:p.Ser42= | |
| ENST00000313071.6:c.125_140delinsGCCACCACCCCCAGCA | ENSP00000339004.3:p.Ser42= | |
| NM_005249.4:c.125_140delinsGCCACCACCCCCAGCA | NP_005240.3:p.Ser42= | |
| NM_005249.5:c.125_140delinsGCCACCACCCCCAGCA MANE Select | NP_005240.3:p.Ser42= |