Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21178516_21178517insCCT , CM000674.2:g.21178516_21178517insCCT | GRCh38 |
| NC_000012.11:g.21331450_21331451insCCT , CM000674.1:g.21331450_21331451insCCT | GRCh37 |
| NC_000012.10:g.21222717_21222718insCCT | NCBI36 |
| NG_011745.1:g.52323_52324insCCT , LRG_1022:g.52323_52324insCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.482-60_482-59insCCT MANE Select | ENSP00000256958.2:n.482-60_482-59insCCT | |
| ENST00000256958.2:c.482-60_482-59insCCT | ENSP00000256958.2:n.482-60_482-59insCCT | |
| NM_006446.4:c.482-60_482-59insCCT , LRG_1022t1:c.482-60_482-59insCCT | NP_006437.3:n.482-60_482-59insCCT | |
| NM_006446.5:c.482-60_482-59insCCT MANE Select | NP_006437.3:n.482-60_482-59insCCT |