ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31388842_31392632del , CM000680.2:g.31388842_31392632del | GRCh38 |
| NC_000018.9:g.28968805_28972595del , CM000680.1:g.28968805_28972595del | GRCh37 |
| NC_000018.8:g.27222803_27226593del | NCBI36 |
| NG_013040.1:g.17066_20856del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308128.9:c.373-32_1005+292del (DSG4) | ||
| ENST00000308128.8:c.373-32_1005+292del (DSG4) | ||
| ENST00000359747.4:c.373-32_1005+292del (DSG4) | ||
| NM_001134453.1:c.373-32_1005+292del (DSG4) | ||
| NM_177986.3:c.373-32_1005+292del (DSG4) | ||
| NR_110788.1:n.156+34204_157-34386del (DSG1-AS1) | ||
| NM_001134453.2:c.373-32_1005+292del (DSG4) | ||
| NM_177986.4:c.373-32_1005+292del (DSG4) | ||
| NM_177986.5:c.373-32_1005+292del (DSG4) | ||
| NM_001134453.3:c.373-32_1005+292del (DSG4) |