Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139454243_139454250del , CM000666.2:g.139454243_139454250del | GRCh38 |
| NC_000004.11:g.140375397_140375404del , CM000666.1:g.140375397_140375404del | GRCh37 |
| NC_000004.10:g.140594847_140594854del | NCBI36 |
| NG_051587.1:g.6012_6019del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_031296.3:c.48_55del MANE Select | NP_112586.1:p.Gly17ValfsTer? |
| ENST00000305626.6:c.48_55del MANE Select | ENSP00000306496.5:p.Gly17ValfsTer? |
| NM_031296.1:c.48_55del | NP_112586.1:p.Gly17ValfsTer? |
| NM_031296.2:c.48_55del | NP_112586.1:p.Gly17ValfsTer? |
| ENST00000305626.5:c.48_55del | ENSP00000306496.5:p.Gly17ValfsTer? |
| ENST00000507271.1:n.533_540del | |
| ENST00000652268.1:c.192_199del | ENSP00000498778.1:p.Gly65ValfsTer? |
| XM_011532299.1:c.192_199del | XP_011530601.1:p.Gly65ValfsTer? |