Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118272_78118274delinsCTG , CM000685.2:g.78118272_78118274delinsCTG | GRCh38 |
| NC_000023.10:g.77373769_77373771delinsCTG , CM000685.1:g.77373769_77373771delinsCTG | GRCh37 |
| NC_000023.9:g.77260425_77260427delinsCTG | NCBI36 |
| NG_008862.1:g.19104_19106delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.641+102_641+104delinsCTG MANE Select | ENSP00000362413.4:n.641+102_641+104delinsCTG | |
| ENST00000644362.1:c.557+102_557+104delinsCTG | ENSP00000496140.1:n.557+102_557+104delinsCTG | |
| ENST00000373316.4:c.641+102_641+104delinsCTG | ENSP00000362413.4:n.641+102_641+104delinsCTG | |
| ENST00000491291.1:n.633+102_633+104delinsCTG | ||
| NM_000291.3:c.641+102_641+104delinsCTG | NP_000282.1:n.641+102_641+104delinsCTG | |
| NM_000291.4:c.641+102_641+104delinsCTG MANE Select | NP_000282.1:n.641+102_641+104delinsCTG |