Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647113_68647116delinsTTTC , CM000666.2:g.68647113_68647116delinsTTTC | GRCh38 |
| NC_000004.11:g.69512831_69512834delinsTTTC , CM000666.1:g.69512831_69512834delinsTTTC | GRCh37 |
| NC_000004.10:g.69195426_69195429delinsTTTC | NCBI36 |
| NG_052676.1:g.28661_28664delinsGAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1581_1584delinsGAAA MANE Select | ENSP00000341045.5:p.Lys527= | |
| ENST00000338206.5:c.1581_1584delinsGAAA | ENSP00000341045.5:p.Lys527= | |
| ENST00000616841.4:c.1581_1584delinsGAAA | ENSP00000482004.1:p.Lys527= | |
| NM_001076.3:c.1581_1584delinsGAAA | NP_001067.2:p.Lys527= | |
| NM_001076.4:c.1581_1584delinsGAAA MANE Select | NP_001067.2:p.Lys527= |