Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31547712_31547713del , CM000680.2:g.31547712_31547713del | GRCh38 |
| NC_000018.9:g.29127675_29127676del , CM000680.1:g.29127675_29127676del | GRCh37 |
| NC_000018.8:g.27381673_27381674del | NCBI36 |
| NG_007072.3:g.54471_54472del , LRG_397:g.54471_54472del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*969_*970del (DSG2) MANE Select | ENSP00000261590.8:n.*969_*970del | |
| ENST00000261590.12:c.*969_*970del (DSG2) | ENSP00000261590.8:n.*969_*970del | |
| NM_001943.3:c.*969_*970del , LRG_397t1:c.*969_*970del (DSG2) | NP_001934.2:n.*969_*970del | |
| NR_045216.1:n.1346-1805_1346-1804del (DSG2-AS1) | ||
| NM_001943.4:c.*969_*970del (DSG2) | NP_001934.2:n.*969_*970del | |
| NM_001943.5:c.*969_*970del (DSG2) MANE Select | NP_001934.2:n.*969_*970del |