Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612759_1612760insACA , CM000668.2:g.1612759_1612760insACA | GRCh38 |
| NC_000006.11:g.1612994_1612995insACA , CM000668.1:g.1612994_1612995insACA | GRCh37 |
| NC_000006.10:g.1557993_1557994insACA | NCBI36 |
| NG_009368.1:g.7314_7315insACA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*652_*653insACA MANE Select | ENSP00000493906.1:n.*652_*653insACA | |
| ENST00000380874.3:c.*652_*653insACA | ENSP00000370256.2:n.*652_*653insACA | |
| NM_001453.2:c.2314_2315insACA | NP_001444.2:n.2314_2315insACA | |
| NM_001453.3:c.*652_*653insACA MANE Select | NP_001444.2:n.*652_*653insACA |