Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31354968_31354971del , CM000680.2:g.31354968_31354971del | GRCh38 |
| NC_000018.9:g.28934931_28934934del , CM000680.1:g.28934931_28934934del | GRCh37 |
| NC_000018.8:g.27188929_27188932del | NCBI36 |
| NG_011803.2:g.41880_41883del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001942.4:c.2772_2775del (DSG1) MANE Select | NP_001933.2:p.Arg925Ter |
| ENST00000257192.5:c.2772_2775del (DSG1) MANE Select | ENSP00000257192.4:p.Arg925Ter |
| NM_001942.3:c.2772_2775del (DSG1) | NP_001933.2:p.Arg925Ter |
| NR_110788.1:n.157-515_157-512del (DSG1-AS1) | |
| ENST00000257192.4:c.2772_2775del (DSG1) | ENSP00000257192.4:p.Arg925Ter |
| ENST00000462981.2:c.849_852del (DSG1) | ENSP00000462666.1:p.Arg284Ter |