Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.192812270_192812272delinsATT , CM000663.2:g.192812270_192812272delinsATT | GRCh38 |
| NC_000001.10:g.192781400_192781402delinsATT , CM000663.1:g.192781400_192781402delinsATT | GRCh37 |
| NC_000001.9:g.191048023_191048025delinsATT | NCBI36 |
| NG_012800.1:g.8232_8234delinsATT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235382.7:c.*674_*676delinsATT MANE Select | ENSP00000235382.5:n.*674_*676delinsATT | |
| ENST00000235382.6:c.*674_*676delinsATT | ENSP00000235382.5:n.*674_*676delinsATT | |
| NM_002923.3:c.*674_*676delinsATT | NP_002914.1:n.*674_*676delinsATT | |
| NM_002923.4:c.*674_*676delinsATT MANE Select | NP_002914.1:n.*674_*676delinsATT |