Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229431586_229431587del , CM000663.2:g.229431586_229431587del | GRCh38 |
| NC_000001.10:g.229567333_229567334del , CM000663.1:g.229567333_229567334del | GRCh37 |
| NC_000001.9:g.227633956_227633957del | NCBI36 |
| NG_006672.1:g.7510_7511del , LRG_429:g.7510_7511del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.991-23_991-22del | ENSP00000355644.4:n.991-23_991-22del | |
| ENST00000684723.1:c.911_912del | ENSP00000508084.1:p.Ala304ValfsTer? | |
| ENST00000366683.3:c.677_678del | ENSP00000355644.3:p.Ala226ValfsTer? | |
| ENST00000366684.7:c.1046_1047del MANE Select | ENSP00000355645.3:p.Ala349ValfsTer? | |
| NM_001100.3:c.1046_1047del , LRG_429t1:c.1046_1047del | NP_001091.1:p.Ala349ValfsTer? | |
| NM_001100.4:c.1046_1047del MANE Select | NP_001091.1:p.Ala349ValfsTer? |