Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583041_41583042delinsTG , CM000679.2:g.41583041_41583042delinsTG | GRCh38 |
| NC_000017.10:g.39739293_39739294delinsTG , CM000679.1:g.39739293_39739294delinsTG | GRCh37 |
| NC_000017.9:g.36992819_36992820delinsTG | NCBI36 |
| NG_008624.1:g.8854_8855delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1321+52_1321+53delinsCA MANE Select | ENSP00000167586.6:n.1321+52_1321+53delinsCA | |
| ENST00000167586.6:c.1321+52_1321+53delinsCA | ENSP00000167586.6:n.1321+52_1321+53delinsCA | |
| ENST00000441550.2:n.320_321delinsCA | ||
| NM_000526.4:c.1321+52_1321+53delinsCA | NP_000517.2:n.1321+52_1321+53delinsCA | |
| NM_000526.5:c.1321+52_1321+53delinsCA MANE Select | NP_000517.3:n.1321+52_1321+53delinsCA |