Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55232913del , CM000667.2:g.55232913del | GRCh38 |
| NC_000005.9:g.54528741del , CM000667.1:g.54528741del | GRCh37 |
| NC_000005.8:g.54564498del | NCBI36 |
| NG_034201.1:g.5808del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.381+233del MANE Select | ENSP00000282572.4:n.381+233del | |
| ENST00000282572.4:c.381+233del | ENSP00000282572.4:n.381+233del | |
| ENST00000501463.2:c.*218del | ENSP00000422485.1:n.*218del | |
| NM_021147.4:c.381+233del | NP_066970.3:n.381+233del | |
| NR_125346.1:n.808del | ||
| NR_125347.1:n.580+228del | ||
| NR_125348.1:n.82del | ||
| NM_021147.5:c.381+233del MANE Select | NP_066970.3:n.381+233del | |
| NR_125346.2:n.699del | ||
| NR_125347.2:n.471+228del |