Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229432410_229432427del , CM000663.2:g.229432410_229432427del | GRCh38 |
| NC_000001.10:g.229568157_229568174del , CM000663.1:g.229568157_229568174del | GRCh37 |
| NC_000001.9:g.227634780_227634797del | NCBI36 |
| NG_006672.1:g.6672_6689del , LRG_429:g.6672_6689del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366683.4:c.461_478del | ENSP00000355644.4:p.Val154_Asp159del | |
| ENST00000684723.1:c.326_343del | ENSP00000508084.1:p.Val109_Asp114del | |
| ENST00000366683.3:c.461_478del | ENSP00000355644.3:p.Val154_Asp159del | |
| ENST00000366684.7:c.461_478del MANE Select | ENSP00000355645.3:p.Val154_Asp159del | |
| NM_001100.3:c.461_478del , LRG_429t1:c.461_478del | NP_001091.1:p.Val154_Asp159del | |
| NM_001100.4:c.461_478del MANE Select | NP_001091.1:p.Val154_Asp159del |