Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516464_52516465delinsGA , CM000674.2:g.52516464_52516465delinsGA | GRCh38 |
| NC_000012.11:g.52910248_52910249delinsGA , CM000674.1:g.52910248_52910249delinsGA | GRCh37 |
| NC_000012.10:g.51196515_51196516delinsGA | NCBI36 |
| NG_008297.1:g.8995_8996delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+172_1439+173delinsTC MANE Select | ENSP00000252242.4:n.1439+172_1439+173delinsTC | |
| ENST00000252242.8:c.1439+172_1439+173delinsTC | ENSP00000252242.4:n.1439+172_1439+173delinsTC | |
| ENST00000548409.5:c.561+172_561+173delinsTC | ||
| ENST00000549511.5:n.646+172_646+173delinsTC | ||
| ENST00000552629.5:n.1709_1710delinsTC | ||
| NM_000424.3:c.1439+172_1439+173delinsTC | NP_000415.2:n.1439+172_1439+173delinsTC | |
| NM_000424.4:c.1439+172_1439+173delinsTC MANE Select | NP_000415.2:n.1439+172_1439+173delinsTC |