Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171651996del , CM000663.2:g.171651996del | GRCh38 |
| NC_000001.10:g.171621136del , CM000663.1:g.171621136del | GRCh37 |
| NC_000001.9:g.169887759del | NCBI36 |
| NG_008859.1:g.5638del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.604+12del MANE Select | ENSP00000037502.5:n.604+12del | |
| ENST00000638471.1:c.130+486del | ENSP00000491206.1:n.130+486del | |
| ENST00000037502.10:c.604+12del | ENSP00000037502.5:n.604+12del | |
| ENST00000614688.1:c.604+12del | ENSP00000478680.1:n.604+12del | |
| NM_000261.1:c.604+12del | NP_000252.1:n.604+12del | |
| NM_000261.2:c.604+12del MANE Select | NP_000252.1:n.604+12del |