Linked Data
gnomAD v4:
18-31547107-T-TGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31547108_31547110dup , CM000680.2:g.31547108_31547110dup | GRCh38 |
| NC_000018.9:g.29127071_29127073dup , CM000680.1:g.29127071_29127073dup | GRCh37 |
| NC_000018.8:g.27381069_27381071dup | NCBI36 |
| NG_007072.3:g.53867_53869dup , LRG_397:g.53867_53869dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261590.13:c.*365_*367dup (DSG2) MANE Select | ENSP00000261590.8:n.*365_*367dup | |
| ENST00000261590.12:c.*365_*367dup (DSG2) | ENSP00000261590.8:n.*365_*367dup | |
| NM_001943.3:c.*365_*367dup , LRG_397t1:c.*365_*367dup (DSG2) | NP_001934.2:n.*365_*367dup | |
| NR_045216.1:n.1346-1204_1346-1202dup (DSG2-AS1) | ||
| NM_001943.4:c.*365_*367dup (DSG2) | NP_001934.2:n.*365_*367dup | |
| XM_024451095.1:c.*365_*367dup (DSG2) | XP_024306863.1:n.*365_*367dup | |
| NM_001943.5:c.*365_*367dup (DSG2) MANE Select | NP_001934.2:n.*365_*367dup |