Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533320del , CM000681.2:g.7533320del | GRCh38 |
| NC_000019.9:g.7598206del , CM000681.1:g.7598206del | GRCh37 |
| NC_000019.8:g.7504206del | NCBI36 |
| NG_013374.1:g.4169del | |
| NG_015806.1:g.15711del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1576-203del MANE Select | ENSP00000264079.5:n.1576-203del | |
| ENST00000264079.10:c.1576-203del | ENSP00000264079.5:n.1576-203del | |
| ENST00000394321.9:n.1891-203del | ||
| ENST00000599334.1:c.304-203del | ||
| NM_020533.2:c.1576-203del | NP_065394.1:n.1576-203del | |
| NM_020533.3:c.1576-203del MANE Select | NP_065394.1:n.1576-203del |