Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8321433del , CM000681.2:g.8321433del | GRCh38 |
| NC_000019.9:g.8386317del , CM000681.1:g.8386317del | GRCh37 |
| NC_000019.8:g.8292317del | NCBI36 |
| NG_028213.1:g.4965del | |
| NG_028213.2:g.4965del | |
| NG_050637.1:g.4934del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-87-59428del (ELAVL1) | ENSP00000264073.6:n.-87-59428del | |
| ENST00000449223.3:n.276del (RPS28) |