Linked Data
gnomAD v4:
18-31546961-A-ATGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31546969_31546971dup , CM000680.2:g.31546969_31546971dup | GRCh38 |
| NC_000018.9:g.29126932_29126934dup , CM000680.1:g.29126932_29126934dup | GRCh37 |
| NC_000018.8:g.27380930_27380932dup | NCBI36 |
| NG_007072.3:g.53728_53730dup , LRG_397:g.53728_53730dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*226_*228dup (DSG2) MANE Select | ENSP00000261590.8:n.*226_*228dup | |
| ENST00000261590.12:c.*226_*228dup (DSG2) | ENSP00000261590.8:n.*226_*228dup | |
| NM_001943.3:c.*226_*228dup , LRG_397t1:c.*226_*228dup (DSG2) | NP_001934.2:n.*226_*228dup | |
| NR_045216.1:n.1346-1058_1346-1056dup (DSG2-AS1) | ||
| NM_001943.4:c.*226_*228dup (DSG2) | NP_001934.2:n.*226_*228dup | |
| XM_024451095.1:c.*226_*228dup (DSG2) | XP_024306863.1:n.*226_*228dup | |
| NM_001943.5:c.*226_*228dup (DSG2) MANE Select | NP_001934.2:n.*226_*228dup |