Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516424_52516425insCTG , CM000674.2:g.52516424_52516425insCTG | GRCh38 |
| NC_000012.11:g.52910208_52910209insCTG , CM000674.1:g.52910208_52910209insCTG | GRCh37 |
| NC_000012.10:g.51196475_51196476insCTG | NCBI36 |
| NG_008297.1:g.9035_9036insCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+212_1439+213insCAG MANE Select | ENSP00000252242.4:n.1439+212_1439+213insCAG | |
| ENST00000252242.8:c.1439+212_1439+213insCAG | ENSP00000252242.4:n.1439+212_1439+213insCAG | |
| ENST00000548409.5:c.561+212_561+213insCAG | ||
| ENST00000549511.5:n.646+212_646+213insCAG | ||
| ENST00000552629.5:n.1749_1750insCAG | ||
| NM_000424.3:c.1439+212_1439+213insCAG | NP_000415.2:n.1439+212_1439+213insCAG | |
| NM_000424.4:c.1439+212_1439+213insCAG MANE Select | NP_000415.2:n.1439+212_1439+213insCAG |