Linked Data
dbSNP Id:
rs1165486993
gnomAD v2:
20-34383782-A-AT
gnomAD v3:
20-35795860-A-AT
gnomAD v4:
20-35795860-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35795870dup , CM000682.2:g.35795870dup | GRCh38 |
| NC_000020.10:g.34383792dup , CM000682.1:g.34383792dup | GRCh37 |
| NC_000020.9:g.33847206dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374012.8:c.-32-5621dup MANE Select | ENSP00000363124.3:n.-32-5621dup | |
| ENST00000339089.10:c.-32-5621dup | ENSP00000341900.6:n.-32-5621dup | |
| ENST00000374000.8:c.-112-4224dup | ENSP00000363112.4:n.-112-4224dup | |
| ENST00000374012.7:c.-32-5621dup | ENSP00000363124.3:n.-32-5621dup | |
| ENST00000452270.5:c.-32-5621dup | ENSP00000404455.1:n.-32-5621dup | |
| ENST00000461122.5:n.106+23791dup | ||
| ENST00000461405.1:n.69-5621dup | ||
| ENST00000481202.5:n.55-5621dup | ||
| NM_016436.4:c.-32-5621dup | NP_057520.2:n.-32-5621dup | |
| XM_011528842.1:c.-32-5621dup | XP_011527144.1:n.-32-5621dup | |
| XM_011528843.1:c.-853-5621dup | XP_011527145.1:n.-853-5621dup | |
| XM_011528845.1:c.-950-5621dup | XP_011527147.1:n.-950-5621dup | |
| XM_011528843.2:c.-853-5621dup | XP_011527145.1:n.-853-5621dup | |
| XM_017027868.2:c.-32-5621dup | XP_016883357.1:n.-32-5621dup | |
| XM_017027869.2:c.-380-4224dup | XP_016883358.1:n.-380-4224dup | |
| XM_017027870.2:c.-397-5621dup | XP_016883359.1:n.-397-5621dup | |
| XM_017027871.2:c.-1338-5621dup | XP_016883360.1:n.-1338-5621dup | |
| XM_024451889.1:c.-300-5621dup | XP_024307657.1:n.-300-5621dup | |
| XM_024451890.1:c.-1606-5621dup | XP_024307658.1:n.-1606-5621dup | |
| NM_016436.5:c.-32-5621dup MANE Select | NP_057520.2:n.-32-5621dup |