Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.55233463_55233465del , CM000667.2:g.55233463_55233465del | GRCh38 |
| NC_000005.9:g.54529291_54529293del , CM000667.1:g.54529291_54529293del | GRCh37 |
| NC_000005.8:g.54565048_54565050del | NCBI36 |
| NG_034201.1:g.5255_5257del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282572.5:c.61_63del MANE Select | ENSP00000282572.4:p.Asn21del | |
| ENST00000282572.4:c.61_63del | ENSP00000282572.4:p.Asn21del | |
| ENST00000501463.2:c.61_63del | ENSP00000422485.1:p.Asn21del | |
| NM_021147.4:c.61_63del | NP_066970.3:p.Asn21del | |
| NR_125346.1:n.255_257del | ||
| NR_125347.1:n.255_257del | ||
| NM_021147.5:c.61_63del MANE Select | NP_066970.3:p.Asn21del | |
| NR_125346.2:n.146_148del | ||
| NR_125347.2:n.146_148del |