Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113904832_113904834dup , CM000673.2:g.113904832_113904834dup | GRCh38 |
| NC_000011.9:g.113775554_113775556dup , CM000673.1:g.113775554_113775556dup | GRCh37 |
| NC_000011.8:g.113280764_113280766dup | NCBI36 |
| NG_011483.1:g.4966_4968dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006028.5:c.-102_-100dup MANE Select | NP_006019.1:n.-102_-100dup |
| ENST00000260191.8:c.-102_-100dup MANE Select | ENSP00000260191.2:n.-102_-100dup |
| NM_006028.4:c.-102_-100dup | NP_006019.1:n.-102_-100dup |
| ENST00000260191.6:c.-102_-100dup | ENSP00000260191.2:n.-102_-100dup |
| ENST00000260191.7:c.-102_-100dup | ENSP00000260191.2:n.-102_-100dup |
| XM_011543064.1:c.12+5749_12+5751dup | XP_011541366.1:n.12+5749_12+5751dup |
| XM_024448767.1:c.-242-4463_-242-4461dup | XP_024304535.1:n.-242-4463_-242-4461dup |