Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122472068_122472072delinsTATAA , CM000672.2:g.122472068_122472072delinsTATAA | GRCh38 |
| NC_000010.10:g.124231584_124231588delinsTATAA , CM000672.1:g.124231584_124231588delinsTATAA | GRCh37 |
| NC_000010.9:g.124221574_124221578delinsTATAA | NCBI36 |
| NG_011554.1:g.15544_15548delinsTATAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.472+9944_472+9948delinsTATAA MANE Select | ENSP00000357980.3:n.472+9944_472+9948delinsTATAA | |
| ENST00000648167.1:c.154+13359_154+13363delinsTATAA | ENSP00000498033.1:n.154+13359_154+13363delinsTATAA | |
| ENST00000368984.7:c.472+9944_472+9948delinsTATAA | ENSP00000357980.3:n.472+9944_472+9948delinsTATAA | |
| NM_002775.4:c.472+9944_472+9948delinsTATAA | NP_002766.1:n.472+9944_472+9948delinsTATAA | |
| NM_002775.5:c.472+9944_472+9948delinsTATAA MANE Select | NP_002766.1:n.472+9944_472+9948delinsTATAA |