Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232791_1232798del , CM000663.2:g.1232791_1232798del | GRCh38 |
| NC_000001.10:g.1168171_1168178del , CM000663.1:g.1168171_1168178del | GRCh37 |
| NC_000001.9:g.1158034_1158041del | NCBI36 |
| NG_030007.1:g.4273_4280del | |
| NG_033265.1:g.5543_5550del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.513_520del MANE Select | ENSP00000368496.2:p.Glu174AlafsTer? | |
| ENST00000379198.3:c.513_520del | ENSP00000368496.2:p.Glu174AlafsTer? | |
| NM_080605.3:c.513_520del | NP_542172.2:p.Glu174AlafsTer? | |
| NM_080605.4:c.513_520del MANE Select | NP_542172.2:p.Glu174AlafsTer? |