Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6586048_6586050del , CM000681.2:g.6586048_6586050del | GRCh38 |
| NC_000019.9:g.6586059_6586061del , CM000681.1:g.6586059_6586061del | GRCh37 |
| NC_000019.8:g.6537059_6537061del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001252.5:c.555_557del MANE Select | NP_001243.1:p.Phe186del |
| ENST00000245903.4:c.555_557del MANE Select | ENSP00000245903.2:p.Phe186del |
| NM_001252.4:c.555_557del | NP_001243.1:p.Phe186del |
| NM_001330332.1:c.448+107_448+109del | NP_001317261.1:n.448+107_448+109del |
| NM_001330332.2:c.448+107_448+109del | NP_001317261.1:n.448+107_448+109del |
| ENST00000245903.3:c.555_557del | ENSP00000245903.2:p.Phe186del |
| ENST00000423145.7:c.448+107_448+109del | ENSP00000395294.2:n.448+107_448+109del |