Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123477_78123480delinsTAGG , CM000685.2:g.78123477_78123480delinsTAGG | GRCh38 |
| NC_000023.10:g.77378974_77378977delinsTAGG , CM000685.1:g.77378974_77378977delinsTAGG | GRCh37 |
| NC_000023.9:g.77265630_77265633delinsTAGG | NCBI36 |
| NG_008862.1:g.24309_24312delinsTAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.936+103_936+106delinsTAGG MANE Select | ENSP00000362413.4:n.936+103_936+106delinsTAGG | |
| ENST00000644362.1:c.852+103_852+106delinsTAGG | ENSP00000496140.1:n.852+103_852+106delinsTAGG | |
| ENST00000373316.4:c.936+103_936+106delinsTAGG | ENSP00000362413.4:n.936+103_936+106delinsTAGG | |
| NM_000291.3:c.936+103_936+106delinsTAGG | NP_000282.1:n.936+103_936+106delinsTAGG | |
| NM_000291.4:c.936+103_936+106delinsTAGG MANE Select | NP_000282.1:n.936+103_936+106delinsTAGG |