Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149582218_149582225del , CM000664.2:g.149582218_149582225del | GRCh38 |
| NC_000002.11:g.150438732_150438739del , CM000664.1:g.150438732_150438739del | GRCh37 |
| NC_000002.10:g.150146978_150146985del | NCBI36 |
| NG_009189.1:g.10593_10600del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.57_64del MANE Select | ENSP00000301920.5:p.Ser20Ter | |
| ENST00000303319.9:c.57_64del | ENSP00000301920.5:p.Ser20Ter | |
| ENST00000422782.2:c.57_64del | ENSP00000408331.2:p.Ser20Ter | |
| ENST00000428879.5:c.57_64del | ENSP00000389060.1:p.Ser20Ter | |
| NM_015702.2:c.57_64del | NP_056517.1:p.Ser20Ter | |
| NM_015702.3:c.57_64del MANE Select | NP_056517.1:p.Ser20Ter |