Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8377209_8377213del , CM000681.2:g.8377209_8377213del | GRCh38 |
| NC_000019.9:g.8442093_8442097del , CM000681.1:g.8442093_8442097del | GRCh37 |
| NC_000019.8:g.8348093_8348097del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+67793_-88+67797del (ELAVL1) | ENSP00000264073.6:n.-88+67793_-88+67797del | |
| NR_038237.1:n.684-146_684-142del (RAB11B-AS1) |