Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50916155_50916156insGTG , CM000685.2:g.50916155_50916156insGTG | GRCh38 |
| NC_000023.10:g.50659155_50659156insGTG , CM000685.1:g.50659155_50659156insGTG | GRCh37 |
| NC_000023.9:g.50675895_50675896insGTG | NCBI36 |
| NG_012894.1:g.10372_10373insGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.727_728insGTG MANE Select | ENSP00000252677.3:p.Ile243delinsSerVal | |
| ENST00000252677.3:c.727_728insGTG | ENSP00000252677.3:p.Ile243delinsSerVal | |
| NM_005448.2:c.727_728insGTG MANE Select | NP_005439.2:p.Ile243delinsSerVal |