Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118227_78118228insGA , CM000685.2:g.78118227_78118228insGA | GRCh38 |
| NC_000023.10:g.77373724_77373725insGA , CM000685.1:g.77373724_77373725insGA | GRCh37 |
| NC_000023.9:g.77260380_77260381insGA | NCBI36 |
| NG_008862.1:g.19059_19060insGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.641+57_641+58insGA MANE Select | ENSP00000362413.4:n.641+57_641+58insGA | |
| ENST00000644362.1:c.557+57_557+58insGA | ENSP00000496140.1:n.557+57_557+58insGA | |
| ENST00000373316.4:c.641+57_641+58insGA | ENSP00000362413.4:n.641+57_641+58insGA | |
| ENST00000491291.1:n.633+57_633+58insGA | ||
| NM_000291.3:c.641+57_641+58insGA | NP_000282.1:n.641+57_641+58insGA | |
| NM_000291.4:c.641+57_641+58insGA MANE Select | NP_000282.1:n.641+57_641+58insGA |