Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990473_45990474insGCGTG , CM000683.2:g.45990473_45990474insGCGTG | GRCh38 |
| NC_000021.8:g.47410387_47410388insGCGTG , CM000683.1:g.47410387_47410388insGCGTG | GRCh37 |
| NC_000021.7:g.46234815_46234816insGCGTG | NCBI36 |
| NG_008674.1:g.13725_13726insGCGTG , LRG_475:g.13725_13726insGCGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+51_1002+52insGCGTG MANE Select | ENSP00000355180.3:n.1002+51_1002+52insGCGTG | |
| ENST00000361866.7:c.1002+51_1002+52insGCGTG | ENSP00000355180.3:n.1002+51_1002+52insGCGTG | |
| ENST00000612273.1:c.1002+51_1002+52insGCGTG | ENSP00000483630.1:n.1002+51_1002+52insGCGTG | |
| NM_001848.2:c.1002+51_1002+52insGCGTG , LRG_475t1:c.1002+51_1002+52insGCGTG | NP_001839.2:n.1002+51_1002+52insGCGTG | |
| NM_001848.3:c.1002+51_1002+52insGCGTG MANE Select | NP_001839.2:n.1002+51_1002+52insGCGTG |