Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670307_68670309delinsATT , CM000666.2:g.68670307_68670309delinsATT | GRCh38 |
| NC_000004.11:g.69536025_69536027delinsATT , CM000666.1:g.69536025_69536027delinsATT | GRCh37 |
| NC_000004.10:g.69218620_69218622delinsATT | NCBI36 |
| NG_052676.1:g.5468_5470delinsAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.310_312delinsAAT MANE Select | ENSP00000341045.5:p.Asn104= | |
| ENST00000338206.5:c.310_312delinsAAT | ENSP00000341045.5:p.Asn104= | |
| ENST00000616841.4:c.310_312delinsAAT | ENSP00000482004.1:p.Asn104= | |
| NM_001076.3:c.310_312delinsAAT | NP_001067.2:p.Asn104= | |
| NM_001076.4:c.310_312delinsAAT MANE Select | NP_001067.2:p.Asn104= |