Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610408_1610427del , CM000668.2:g.1610408_1610427del | GRCh38 |
| NC_000006.11:g.1610643_1610662del , CM000668.1:g.1610643_1610662del | GRCh37 |
| NC_000006.10:g.1555642_1555661del | NCBI36 |
| NG_009368.1:g.4963_4982del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645831.2:c.-38_-19del MANE Select | ENSP00000493906.1:n.-38_-19del | |
| ENST00000380874.3:c.-38_-19del | ENSP00000370256.2:n.-38_-19del | |
| NM_001453.3:c.-38_-19del MANE Select | NP_001444.2:n.-38_-19del |