Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984429_45984440del , CM000683.2:g.45984429_45984440del | GRCh38 |
| NC_000021.8:g.47404343_47404354del , CM000683.1:g.47404343_47404354del | GRCh37 |
| NC_000021.7:g.46228771_46228782del | NCBI36 |
| NG_008674.1:g.7681_7692del , LRG_475:g.7681_7692del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.388_399del MANE Select | ENSP00000355180.3:p.Asp130_Ile133del | |
| ENST00000361866.7:c.388_399del | ENSP00000355180.3:p.Asp130_Ile133del | |
| ENST00000612273.1:c.388_399del | ENSP00000483630.1:p.Asp130_Ile133del | |
| NM_001848.2:c.388_399del , LRG_475t1:c.388_399del | NP_001839.2:p.Asp130_Ile133del | |
| NM_001848.3:c.388_399del MANE Select | NP_001839.2:p.Asp130_Ile133del |