Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94041487_94041494del , CM000663.2:g.94041487_94041494del | GRCh38 |
| NC_000001.10:g.94507043_94507050del , CM000663.1:g.94507043_94507050del | GRCh37 |
| NC_000001.9:g.94279631_94279638del | NCBI36 |
| NG_009073.1:g.84656_84663del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3329-92_3329-85del MANE Select | ENSP00000359245.3:n.3329-92_3329-85del | |
| ENST00000370225.3:c.3329-92_3329-85del | ENSP00000359245.3:n.3329-92_3329-85del | |
| ENST00000536513.5:c.-64-1405_-64-1398del | ENSP00000439707.2:n.-64-1405_-64-1398del | |
| NM_000350.2:c.3329-92_3329-85del | NP_000341.2:n.3329-92_3329-85del | |
| NM_000350.3:c.3329-92_3329-85del MANE Select | NP_000341.2:n.3329-92_3329-85del |