Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271250del , CM000668.2:g.31271250del | GRCh38 |
| NC_000006.11:g.31239027del , CM000668.1:g.31239027del | GRCh37 |
| NC_000006.10:g.31347006del | NCBI36 |
| NG_029422.2:g.5882del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.442del MANE Select | ENSP00000365402.5:p.Ile148SerfsTer3 | |
| ENST00000376228.9:c.442del | ENSP00000365402.5:p.Ile148SerfsTer3 | |
| ENST00000376237.8:c.*29del | ENSP00000365412.4:n.*29del | |
| ENST00000383329.7:c.442del | ENSP00000372819.3:p.Ile148SerfsTer3 | |
| ENST00000415537.1:c.440del | ||
| ENST00000484378.1:n.711del | ||
| ENST00000487245.5:n.801del | ||
| ENST00000495835.1:n.631del | ||
| NM_002117.5:c.442del | NP_002108.4:p.Ile148SerfsTer3 | |
| NM_002117.6:c.442del MANE Select | NP_002108.4:p.Ile148SerfsTer3 |