Linked Data
ClinVar Variation Id:
362753
ClinVar RCV Id:
RCV000296185
dbSNP Id:
rs56062620
gnomAD v2:
8-27661066-T-TACACACACAC
gnomAD v3:
8-27803549-T-TACACACACAC
gnomAD v4:
8-27803549-T-TACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27803558_27803567dup , CM000670.2:g.27803558_27803567dup | GRCh38 |
| NC_000008.10:g.27661075_27661084dup , CM000670.1:g.27661075_27661084dup | GRCh37 |
| NC_000008.9:g.27716994_27717003dup | NCBI36 |
| NG_008117.1:g.34018_34027dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.*120_*129dup MANE Select | ENSP00000306999.8:n.*120_*129dup | |
| ENST00000305188.12:c.*120_*129dup | ENSP00000306999.8:n.*120_*129dup | |
| ENST00000397418.4:c.685+185_685+194dup | ENSP00000380563.2:n.685+185_685+194dup | |
| ENST00000522378.5:c.*716+185_*716+194dup | ENSP00000428928.1:n.*716+185_*716+194dup | |
| NM_001017420.2:c.*120_*129dup | NP_001017420.1:n.*120_*129dup | |
| XM_011544421.1:c.*120_*129dup | XP_011542723.1:n.*120_*129dup | |
| XM_011544422.1:c.1741+185_1741+194dup | XP_011542724.1:n.1741+185_1741+194dup | |
| XR_949378.1:n.1825+185_1825+194dup | ||
| XR_949379.1:n.1825+185_1825+194dup | ||
| XM_011544421.2:c.*120_*129dup | XP_011542723.1:n.*120_*129dup | |
| XM_011544422.2:c.1741+185_1741+194dup | XP_011542724.1:n.1741+185_1741+194dup | |
| XR_949378.3:n.1825+185_1825+194dup | ||
| NM_001017420.3:c.*120_*129dup MANE Select | NP_001017420.1:n.*120_*129dup |