Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123996_72124005delinsACACGCTGAC , CM000679.2:g.72123996_72124005delinsACACGCTGAC | GRCh38 |
| NC_000017.10:g.70120137_70120146delinsACACGCTGAC , CM000679.1:g.70120137_70120146delinsACACGCTGAC | GRCh37 |
| NC_000017.9:g.67631732_67631741delinsACACGCTGAC | NCBI36 |
| NG_012490.1:g.7977_7986delinsACACGCTGAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1139_1148delinsACACGCTGAC MANE Select | ENSP00000245479.2:p.His380= | |
| ENST00000245479.2:c.1139_1148delinsACACGCTGAC | ENSP00000245479.2:p.His380= | |
| NM_000346.3:c.1139_1148delinsACACGCTGAC | NP_000337.1:p.His380= | |
| NM_000346.4:c.1139_1148delinsACACGCTGAC MANE Select | NP_000337.1:p.His380= |