Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516558_52516561delinsATGT , CM000674.2:g.52516558_52516561delinsATGT | GRCh38 |
| NC_000012.11:g.52910342_52910345delinsATGT , CM000674.1:g.52910342_52910345delinsATGT | GRCh37 |
| NC_000012.10:g.51196609_51196612delinsATGT | NCBI36 |
| NG_008297.1:g.8899_8902delinsACAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+76_1439+79delinsACAT MANE Select | ENSP00000252242.4:n.1439+76_1439+79delinsACAT | |
| ENST00000252242.8:c.1439+76_1439+79delinsACAT | ENSP00000252242.4:n.1439+76_1439+79delinsACAT | |
| ENST00000548409.5:c.561+76_561+79delinsACAT | ||
| ENST00000549511.5:n.646+76_646+79delinsACAT | ||
| ENST00000552629.5:n.1613_1616delinsACAT | ||
| NM_000424.3:c.1439+76_1439+79delinsACAT | NP_000415.2:n.1439+76_1439+79delinsACAT | |
| NM_000424.4:c.1439+76_1439+79delinsACAT MANE Select | NP_000415.2:n.1439+76_1439+79delinsACAT |