Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271409del , CM000668.2:g.31271409del | GRCh38 |
| NC_000006.11:g.31239186del , CM000668.1:g.31239186del | GRCh37 |
| NC_000006.10:g.31347165del | NCBI36 |
| NG_029422.2:g.5723del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.344-61del MANE Select | ENSP00000365402.5:n.344-61del | |
| ENST00000376228.9:c.344-61del | ENSP00000365402.5:n.344-61del | |
| ENST00000376237.8:c.344-78del | ENSP00000365412.4:n.344-78del | |
| ENST00000383329.7:c.344-61del | ENSP00000372819.3:n.344-61del | |
| ENST00000415537.1:c.342-61del | ||
| ENST00000484378.1:n.552del | ||
| ENST00000487245.5:n.642del | ||
| ENST00000495835.1:n.533-61del | ||
| NM_002117.5:c.344-61del | NP_002108.4:n.344-61del | |
| NM_002117.6:c.344-61del MANE Select | NP_002108.4:n.344-61del |