Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233532_55233542del , CM000667.2:g.55233532_55233542del | GRCh38 |
| NC_000005.9:g.54529360_54529370del , CM000667.1:g.54529360_54529370del | GRCh37 |
| NC_000005.8:g.54565117_54565127del | NCBI36 |
| NG_034201.1:g.5178_5188del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.-17_-7del MANE Select | ENSP00000282572.4:n.-17_-7del | |
| ENST00000282572.4:c.-17_-7del | ENSP00000282572.4:n.-17_-7del | |
| ENST00000501463.2:c.-17_-7del | ENSP00000422485.1:n.-17_-7del | |
| NM_021147.4:c.-17_-7del | NP_066970.3:n.-17_-7del | |
| NR_125346.1:n.178_188del | ||
| NR_125347.1:n.178_188del | ||
| NM_021147.5:c.-17_-7del MANE Select | NP_066970.3:n.-17_-7del | |
| NR_125346.2:n.69_79del | ||
| NR_125347.2:n.69_79del |