Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965351_37965552del , CM000670.2:g.37965351_37965552del | GRCh38 |
| NC_000008.10:g.37822869_37823070del , CM000670.1:g.37822869_37823070del | GRCh37 |
| NC_000008.9:g.37942026_37942227del | NCBI36 |
| NG_011936.1:g.6118_6319del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000025.3:c.921_1122del MANE Select | NP_000016.1:p.Phe308ProfsTer? |
| ENST00000345060.5:c.921_1122del MANE Select | ENSP00000343782.3:p.Phe308ProfsTer? |
| NM_000025.2:c.921_1122del | NP_000016.1:p.Phe308ProfsTer? |
| ENST00000345060.4:c.921_1122del | ENSP00000343782.3:p.Phe308ProfsTer? |
| ENST00000520341.1:n.196_397del | |
| ENST00000520341.2:n.1049_1250del | |
| ENST00000614635.1:c.921_1122del | ENSP00000480325.1:p.Phe308ProfsTer? |
| ENST00000647937.1:c.405_606del | ENSP00000497740.1:p.Phe136ProfsTer? |