Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184913643_184913644delinsCA , CM000664.2:g.184913643_184913644delinsCA | GRCh38 |
| NC_000002.11:g.185778370_185778371delinsCA , CM000664.1:g.185778370_185778371delinsCA | GRCh37 |
| NC_000002.10:g.185486615_185486616delinsCA | NCBI36 |
| NG_046950.1:g.320278_320279delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-19960_256-19959delinsCA MANE Select | ENSP00000303252.6:n.256-19960_256-19959delinsCA | |
| ENST00000302277.6:c.256-19960_256-19959delinsCA | ENSP00000303252.6:n.256-19960_256-19959delinsCA | |
| ENST00000613975.1:c.1-19960_1-19959delinsCA | ENSP00000483032.1:n.1-19960_1-19959delinsCA | |
| NM_194250.1:c.256-19960_256-19959delinsCA | NP_919226.1:n.256-19960_256-19959delinsCA | |
| NM_194250.2:c.256-19960_256-19959delinsCA MANE Select | NP_919226.1:n.256-19960_256-19959delinsCA |