Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50911726_50911735delinsTTTTTC , CM000676.2:g.50911726_50911735delinsTTTTTC | GRCh38 |
| NC_000014.8:g.51378444_51378453delinsTTTTTC , CM000676.1:g.51378444_51378453delinsTTTTTC | GRCh37 |
| NC_000014.7:g.50448194_50448203delinsTTTTTC | NCBI36 |
| NG_012796.1:g.37796_37805delinsGAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001163940.1:c.1862_1867+4delinsGAAAAA | |
| NM_001163940.2:c.1862_1867+4delinsGAAAAA | |
| NM_002863.4:c.1964_1969+4delinsGAAAAA | |
| NM_002863.5:c.1964_1969+4delinsGAAAAA | |
| ENST00000216392.7:c.1964_1969+4delinsGAAAAA | |
| ENST00000216392.8:c.1964_1969+4delinsGAAAAA | |
| ENST00000532107.2:n.137_142+4delinsGAAAAA | |
| ENST00000532462.5:c.1964_1969+4delinsGAAAAA | |
| ENST00000544180.6:c.1862_1867+4delinsGAAAAA |