Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67431325_67431326del , CM000678.2:g.67431325_67431326del | GRCh38 |
| NC_000016.9:g.67465228_67465229del , CM000678.1:g.67465228_67465229del | GRCh37 |
| NC_000016.8:g.66022729_66022730del | NCBI36 |
| NG_016549.1:g.5193_5194del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.77_78del MANE Select | ENSP00000316786.5:p.Ser26Ter | |
| ENST00000326152.5:c.77_78del | ENSP00000316786.5:p.Ser26Ter | |
| ENST00000567684.2:n.128+546_128+547del | ||
| ENST00000569303.1:n.27+177_27+178del | ||
| NM_000196.3:c.77_78del | NP_000187.3:p.Ser26Ter | |
| NM_000196.4:c.77_78del MANE Select | NP_000187.3:p.Ser26Ter |