Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41612301_41612303del , CM000679.2:g.41612301_41612303del | GRCh38 |
| NC_000017.10:g.39768553_39768555del , CM000679.1:g.39768553_39768555del | GRCh37 |
| NC_000017.9:g.37022079_37022081del | NCBI36 |
| NG_008301.1:g.5528_5530del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005557.4:c.389_391del MANE Select | NP_005548.2:p.Ser130del |
| ENST00000301653.9:c.389_391del MANE Select | ENSP00000301653.3:p.Ser130del |
| NM_005557.3:c.389_391del | NP_005548.2:p.Ser130del |
| ENST00000301653.8:c.389_391del | ENSP00000301653.3:p.Ser130del |
| ENST00000588319.1:n.466_468del | |
| ENST00000593067.1:c.-312-14_-312-12del | ENSP00000467124.1:n.-312-14_-312-12del |