Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94949230_94949231insATAGGA , CM000672.2:g.94949230_94949231insATAGGA | GRCh38 |
| NC_000010.10:g.96708987_96708988insATAGGA , CM000672.1:g.96708987_96708988insATAGGA | GRCh37 |
| NC_000010.9:g.96698977_96698978insATAGGA | NCBI36 |
| NG_008385.1:g.15573_15574insATAGGA | |
| NG_008385.2:g.16073_16074insATAGGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.765_766insATAGGA MANE Select | ENSP00000260682.6:p.Met255_Asp256insIleGly | |
| ENST00000643112.1:c.765_766insATAGGA | ENSP00000496202.1:p.Met255_Asp256insIleGly | |
| ENST00000260682.6:c.765_766insATAGGA | ENSP00000260682.6:p.Met255_Asp256insIleGly | |
| ENST00000473496.1:n.536_537insATAGGA | ||
| NM_000771.3:c.765_766insATAGGA | NP_000762.2:p.Met255_Asp256insIleGly | |
| NM_000771.4:c.765_766insATAGGA MANE Select | NP_000762.2:p.Met255_Asp256insIleGly |