Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172908_172910delinsCCA , CM000678.2:g.172908_172910delinsCCA | GRCh38 |
| NC_000016.9:g.222907_222909delinsCCA , CM000678.1:g.222907_222909delinsCCA | GRCh37 |
| NC_000016.8:g.162907_162909delinsCCA | NCBI36 |
| NG_000006.1:g.33771_33773delinsCCA | |
| NG_059186.1:g.1258_1260delinsCCA | |
| NG_059271.1:g.5062_5064delinsCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.-5_-3delinsCCA MANE Select | ENSP00000251595.6:n.-5_-3delinsCCA | |
| ENST00000251595.10:c.-5_-3delinsCCA | ENSP00000251595.6:n.-5_-3delinsCCA | |
| ENST00000397806.1:c.-52_-50delinsCCA | ENSP00000380908.1:n.-52_-50delinsCCA | |
| ENST00000482565.1:n.15_17delinsCCA | ||
| NM_000517.4:c.-5_-3delinsCCA | NP_000508.1:n.-5_-3delinsCCA | |
| NM_000517.6:c.-5_-3delinsCCA MANE Select | NP_000508.1:n.-5_-3delinsCCA |