Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174728968del , CM000667.2:g.174728968del | GRCh38 |
| NC_000005.9:g.174155971del , CM000667.1:g.174155971del | GRCh37 |
| NC_000005.8:g.174088577del | NCBI36 |
| NG_008124.1:g.9397del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002449.5:c.380-191del MANE Select | NP_002440.2:n.380-191del |
| ENST00000239243.7:c.380-191del MANE Select | ENSP00000239243.5:n.380-191del |
| NM_001363626.1:c.*4-191del | NP_001350555.1:n.*4-191del |
| NM_001363626.2:c.*4-191del | NP_001350555.1:n.*4-191del |
| NM_002449.4:c.380-191del | NP_002440.2:n.380-191del |
| ENST00000239243.6:c.380-191del | ENSP00000239243.5:n.380-191del |
| ENST00000507785.2:c.*4-191del | ENSP00000427425.1:n.*4-191del |