Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27084849del , CM000664.2:g.27084849del | GRCh38 |
| NC_000002.11:g.27307717del , CM000664.1:g.27307717del | GRCh37 |
| NC_000002.10:g.27161221del | NCBI36 |
| NG_012199.1:g.3107del | |
| NG_046849.1:g.11283del | |
| NG_012199.2:g.3107del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380320.9:c.2558-142del MANE Select | ENSP00000369677.4:n.2558-142del | |
| ENST00000380320.8:c.2558-142del | ENSP00000369677.4:n.2558-142del | |
| ENST00000433140.1:c.550-142del | ||
| NM_007046.3:c.2558-142del | NP_008977.1:n.2558-142del | |
| XM_006711928.2:c.2558-142del | XP_006711991.1:n.2558-142del | |
| NM_007046.4:c.2558-142del MANE Select | NP_008977.1:n.2558-142del |