Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612753_1612756delinsATCC , CM000668.2:g.1612753_1612756delinsATCC | GRCh38 |
| NC_000006.11:g.1612988_1612991delinsATCC , CM000668.1:g.1612988_1612991delinsATCC | GRCh37 |
| NC_000006.10:g.1557987_1557990delinsATCC | NCBI36 |
| NG_009368.1:g.7308_7311delinsATCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*646_*649delinsATCC MANE Select | ENSP00000493906.1:n.*646_*649delinsATCC | |
| ENST00000380874.3:c.*646_*649delinsATCC | ENSP00000370256.2:n.*646_*649delinsATCC | |
| NM_001453.2:c.2308_2311delinsATCC | NP_001444.2:n.2308_2311delinsATCC | |
| NM_001453.3:c.*646_*649delinsATCC MANE Select | NP_001444.2:n.*646_*649delinsATCC |