Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994530_148994532delinsCAT , CM000667.2:g.148994530_148994532delinsCAT | GRCh38 |
| NC_000005.9:g.148374093_148374095delinsCAT , CM000667.1:g.148374093_148374095delinsCAT | GRCh37 |
| NC_000005.8:g.148354286_148354288delinsCAT | NCBI36 |
| NG_007947.2:g.73643_73645delinsATG , LRG_269:g.73643_73645delinsATG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000515425.6:c.*10179_*10181delinsATG MANE Select | ENSP00000423660.1:n.*10179_*10181delinsATG | |
| ENST00000504690.5:c.*12+9194_*12+9196delinsATG | ENSP00000425627.1:n.*12+9194_*12+9196delinsATG | |
| ENST00000510350.1:n.231+12349_231+12351delinsATG | ||
| NM_024577.3:c.*10179_*10181delinsATG , LRG_269t1:c.*10179_*10181delinsATG | NP_078853.2:n.*10179_*10181delinsATG | |
| NM_024577.4:c.*10179_*10181delinsATG MANE Select | NP_078853.2:n.*10179_*10181delinsATG |