Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990464_45990465insGCCGGGG , CM000683.2:g.45990464_45990465insGCCGGGG | GRCh38 |
| NC_000021.8:g.47410378_47410379insGCCGGGG , CM000683.1:g.47410378_47410379insGCCGGGG | GRCh37 |
| NC_000021.7:g.46234806_46234807insGCCGGGG | NCBI36 |
| NG_008674.1:g.13716_13717insGCCGGGG , LRG_475:g.13716_13717insGCCGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+42_1002+43insGCCGGGG MANE Select | ENSP00000355180.3:n.1002+42_1002+43insGCCGGGG | |
| ENST00000361866.7:c.1002+42_1002+43insGCCGGGG | ENSP00000355180.3:n.1002+42_1002+43insGCCGGGG | |
| ENST00000612273.1:c.1002+42_1002+43insGCCGGGG | ENSP00000483630.1:n.1002+42_1002+43insGCCGGGG | |
| NM_001848.2:c.1002+42_1002+43insGCCGGGG , LRG_475t1:c.1002+42_1002+43insGCCGGGG | NP_001839.2:n.1002+42_1002+43insGCCGGGG | |
| NM_001848.3:c.1002+42_1002+43insGCCGGGG MANE Select | NP_001839.2:n.1002+42_1002+43insGCCGGGG |