Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367849_73367851del , CM000677.2:g.73367849_73367851del | GRCh38 |
| NC_000015.9:g.73660190_73660192del , CM000677.1:g.73660190_73660192del | GRCh37 |
| NC_000015.8:g.71447243_71447245del | NCBI36 |
| NG_009063.1:g.6414_6416del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.420_422del MANE Select | ENSP00000261917.3:p.Glu141del | |
| ENST00000261917.3:c.420_422del | ENSP00000261917.3:p.Glu141del | |
| NM_005477.2:c.420_422del | NP_005468.1:p.Glu141del | |
| NM_005477.3:c.420_422del MANE Select | NP_005468.1:p.Glu141del |