Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19962836_19962844delinsCCTTTAGGG , CM000670.2:g.19962836_19962844delinsCCTTTAGGG | GRCh38 |
| NC_000008.10:g.19820347_19820355delinsCCTTTAGGG , CM000670.1:g.19820347_19820355delinsCCTTTAGGG | GRCh37 |
| NC_000008.9:g.19864627_19864635delinsCCTTTAGGG | NCBI36 |
| NG_008855.1:g.28766_28774delinsCCTTTAGGG | |
| NG_008855.2:g.66120_66128delinsCCTTTAGGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1427+617_1427+625delinsCCTTTAGGG MANE Select | ENSP00000497642.1:n.1427+617_1427+625deli... | |
| ENST00000650478.1:c.367+617_367+625delinsCCTTTAGGG | ENSP00000497560.1:n.367+617_367+625delins... | |
| ENST00000311322.8:c.1427+617_1427+625delinsCCTTTAGGG | ENSP00000309757.6:n.1427+617_1427+625deli... | |
| NM_000237.2:c.1427+617_1427+625delinsCCTTTAGGG | NP_000228.1:n.1427+617_1427+625delinsCCTT... | |
| NM_000237.3:c.1427+617_1427+625delinsCCTTTAGGG MANE Select | NP_000228.1:n.1427+617_1427+625delinsCCTT... |