Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.13787194_13787195del , CM000686.2:g.13787194_13787195del | GRCh38 |
| NC_000024.9:g.15899074_15899075del , CM000686.1:g.15899074_15899075del | GRCh37 |
| NC_000024.8:g.14408468_14408469del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000652544.1:n.684+32405_684+32406del | ||
| ENST00000430079.5:n.430-3725_430-3724del | ||
| ENST00000460561.1:n.213-3725_213-3724del | ||
| ENST00000472227.5:n.351-3725_351-3724del |