Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19957513_19957517delinsCACAG , CM000670.2:g.19957513_19957517delinsCACAG | GRCh38 |
| NC_000008.10:g.19815024_19815028delinsCACAG , CM000670.1:g.19815024_19815028delinsCACAG | GRCh37 |
| NC_000008.9:g.19859304_19859308delinsCACAG | NCBI36 |
| NG_008855.1:g.23443_23447delinsCACAG | |
| NG_008855.2:g.60797_60801delinsCACAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1018+1430_1018+1434delinsCACAG MANE Select | ENSP00000497642.1:n.1018+1430_1018+1434de... | |
| ENST00000650478.1:c.79+1430_79+1434delinsCACAG | ENSP00000497560.1:n.79+1430_79+1434delins... | |
| ENST00000311322.8:c.1018+1430_1018+1434delinsCACAG | ENSP00000309757.6:n.1018+1430_1018+1434de... | |
| NM_000237.2:c.1018+1430_1018+1434delinsCACAG | NP_000228.1:n.1018+1430_1018+1434delinsCA... | |
| NM_000237.3:c.1018+1430_1018+1434delinsCACAG MANE Select | NP_000228.1:n.1018+1430_1018+1434delinsCA... |