Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148994598_148994606delinsAGATGGTTG , CM000667.2:g.148994598_148994606delinsAGATGGTTG | GRCh38 |
| NC_000005.9:g.148374161_148374169delinsAGATGGTTG , CM000667.1:g.148374161_148374169delinsAGATGGTTG | GRCh37 |
| NC_000005.8:g.148354354_148354362delinsAGATGGTTG | NCBI36 |
| NG_007947.2:g.73569_73577delinsCAACCATCT , LRG_269:g.73569_73577delinsCAACCATCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000515425.6:c.*10105_*10113delinsCAACCATCT MANE Select | ENSP00000423660.1:n.*10105_*10113delinsCA... | |
| ENST00000504690.5:c.*12+9120_*12+9128delinsCAACCATCT | ENSP00000425627.1:n.*12+9120_*12+9128deli... | |
| ENST00000510350.1:n.231+12275_231+12283delinsCAACCATCT | ||
| NM_024577.3:c.*10105_*10113delinsCAACCATCT , LRG_269t1:c.*10105_*10113delinsCAACCATCT | NP_078853.2:n.*10105_*10113delinsCAACCATC... | |
| NM_024577.4:c.*10105_*10113delinsCAACCATCT MANE Select | NP_078853.2:n.*10105_*10113delinsCAACCATC... |