Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.8377208_8377209del , CM000681.2:g.8377208_8377209del | GRCh38 |
| NC_000019.9:g.8442092_8442093del , CM000681.1:g.8442092_8442093del | GRCh37 |
| NC_000019.8:g.8348092_8348093del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351593.9:c.-88+67797_-88+67798del (ELAVL1) | ENSP00000264073.6:n.-88+67797_-88+67798del | |
| NR_038237.1:n.684-142_684-141del (RAB11B-AS1) |