Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20004677_20004678del , CM000686.2:g.20004677_20004678del | GRCh38 |
| NC_000024.9:g.22166563_22166564del , CM000686.1:g.22166563_22166564del | GRCh37 |
| NC_000024.8:g.20625951_20625952del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450781.1:n.208+1089_208+1090del |