Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431576_229431592del , CM000663.2:g.229431576_229431592del | GRCh38 |
| NC_000001.10:g.229567323_229567339del , CM000663.1:g.229567323_229567339del | GRCh37 |
| NC_000001.9:g.227633946_227633962del | NCBI36 |
| NG_006672.1:g.7508_7524del , LRG_429:g.7508_7524del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-25_991-9del | ENSP00000355644.4:n.991-25_991-9del | |
| ENST00000684723.1:c.909_925del | ENSP00000508084.1:p.Ala304ProfsTer? | |
| ENST00000366683.3:c.675_691del | ENSP00000355644.3:p.Ala226ProfsTer? | |
| ENST00000366684.7:c.1044_1060del MANE Select | ENSP00000355645.3:p.Ala349ProfsTer? | |
| NM_001100.3:c.1044_1060del , LRG_429t1:c.1044_1060del | NP_001091.1:p.Ala349ProfsTer? | |
| NM_001100.4:c.1044_1060del MANE Select | NP_001091.1:p.Ala349ProfsTer? |