Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1612767_1612770del , CM000668.2:g.1612767_1612770del | GRCh38 |
| NC_000006.11:g.1613002_1613005del , CM000668.1:g.1613002_1613005del | GRCh37 |
| NC_000006.10:g.1558001_1558004del | NCBI36 |
| NG_009368.1:g.7322_7325del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.*660_*663del MANE Select | ENSP00000493906.1:n.*660_*663del | |
| ENST00000380874.3:c.*660_*663del | ENSP00000370256.2:n.*660_*663del | |
| NM_001453.2:c.2322_2325del | NP_001444.2:n.2322_2325del | |
| NM_001453.3:c.*660_*663del MANE Select | NP_001444.2:n.*660_*663del |