Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1430865_1430867delinsCAA , CM000667.2:g.1430865_1430867delinsCAA | GRCh38 |
| NC_000005.9:g.1430980_1430982delinsCAA , CM000667.1:g.1430980_1430982delinsCAA | GRCh37 |
| NC_000005.8:g.1483980_1483982delinsCAA | NCBI36 |
| NG_015885.1:g.19562_19564delinsTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.653+1597_653+1599delinsTTG MANE Select | ENSP00000270349.9:n.653+1597_653+1599delinsTTG | |
| ENST00000270349.11:c.653+1597_653+1599delinsTTG | ENSP00000270349.9:n.653+1597_653+1599delinsTTG | |
| NM_001044.4:c.653+1597_653+1599delinsTTG | NP_001035.1:n.653+1597_653+1599delinsTTG | |
| NM_001044.5:c.653+1597_653+1599delinsTTG MANE Select | NP_001035.1:n.653+1597_653+1599delinsTTG |