Linked Data
ClinVar Variation Id:
551879
dbSNP Id:
rs1555341954
gnomAD v4:
13-20189342-C-CT
MyVariant Identifiers:
chr13:g.20189343dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189343dup , CM000675.2:g.20189343dup | GRCh38 |
| NC_000013.10:g.20763482dup , CM000675.1:g.20763482dup | GRCh37 |
| NC_000013.9:g.19661482dup | NCBI36 |
| NG_008358.1:g.8633dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.239dup | ENSP00000372295.1:p.Leu81AlafsTer21 | |
| ENST00000382848.5:c.239dup MANE Select | ENSP00000372299.4:p.Leu81AlafsTer21 | |
| ENST00000382844.1:c.239dup | ENSP00000372295.1:p.Leu81AlafsTer21 | |
| ENST00000382848.4:c.239dup | ENSP00000372299.4:p.Leu81AlafsTer21 | |
| NM_004004.5:c.239dup | NP_003995.2:p.Leu81AlafsTer21 | |
| XM_011535049.1:c.239dup | XP_011533351.1:p.Leu81AlafsTer21 | |
| XM_011535049.2:c.239dup | XP_011533351.1:p.Leu81AlafsTer21 | |
| NM_004004.6:c.239dup MANE Select | NP_003995.2:p.Leu81AlafsTer21 |