Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31547093_31547094del , CM000680.2:g.31547093_31547094del | GRCh38 |
| NC_000018.9:g.29127056_29127057del , CM000680.1:g.29127056_29127057del | GRCh37 |
| NC_000018.8:g.27381054_27381055del | NCBI36 |
| NG_007072.3:g.53852_53853del , LRG_397:g.53852_53853del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*350_*351del (DSG2) MANE Select | ENSP00000261590.8:n.*350_*351del | |
| ENST00000261590.12:c.*350_*351del (DSG2) | ENSP00000261590.8:n.*350_*351del | |
| NM_001943.3:c.*350_*351del , LRG_397t1:c.*350_*351del (DSG2) | NP_001934.2:n.*350_*351del | |
| NR_045216.1:n.1346-1188_1346-1187del (DSG2-AS1) | ||
| NM_001943.4:c.*350_*351del (DSG2) | NP_001934.2:n.*350_*351del | |
| XM_024451095.1:c.*350_*351del (DSG2) | XP_024306863.1:n.*350_*351del | |
| NM_001943.5:c.*350_*351del (DSG2) MANE Select | NP_001934.2:n.*350_*351del |