Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90501194_90501195delinsAC , CM000677.2:g.90501194_90501195delinsAC | GRCh38 |
| NC_000015.9:g.91044426_91044427delinsAC , CM000677.1:g.91044426_91044427delinsAC | GRCh37 |
| NC_000015.8:g.88845430_88845431delinsAC | NCBI36 |
| NG_052946.1:g.117954_117955delinsAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268182.10:c.*1086_*1087delinsAC MANE Select | ENSP00000268182.5:n.*1086_*1087delinsAC | |
| ENST00000268182.9:c.*1086_*1087delinsAC | ENSP00000268182.5:n.*1086_*1087delinsAC | |
| ENST00000558957.1:n.2118_2119delinsAC | ||
| ENST00000561086.1:n.1827_1828delinsAC | ||
| NM_003870.3:c.*1086_*1087delinsAC | NP_003861.1:n.*1086_*1087delinsAC | |
| XR_001751409.2:n.6189_6190delinsAC | ||
| NM_003870.4:c.*1086_*1087delinsAC MANE Select | NP_003861.1:n.*1086_*1087delinsAC |