Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612972_1612973delinsAG , CM000668.2:g.1612972_1612973delinsAG | GRCh38 |
| NC_000006.11:g.1613207_1613208delinsAG , CM000668.1:g.1613207_1613208delinsAG | GRCh37 |
| NC_000006.10:g.1558206_1558207delinsAG | NCBI36 |
| NG_009368.1:g.7527_7528delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*865_*866delinsAG MANE Select | ENSP00000493906.1:n.*865_*866delinsAG | |
| ENST00000380874.3:c.*865_*866delinsAG | ENSP00000370256.2:n.*865_*866delinsAG | |
| NM_001453.2:c.2527_2528delinsAG | NP_001444.2:n.2527_2528delinsAG | |
| NM_001453.3:c.*865_*866delinsAG MANE Select | NP_001444.2:n.*865_*866delinsAG |