Linked Data
ClinVar Variation Id:
2573552
ClinVar RCV Id:
RCV003317888
dbSNP Id:
rs1456176865
gnomAD v2:
21-47558489-GCCA-G
gnomAD v3:
21-46138575-GCCA-G
gnomAD v4:
21-46138575-GCCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46138578_46138580del , CM000683.2:g.46138578_46138580del | GRCh38 |
| NC_000021.8:g.47558492_47558494del , CM000683.1:g.47558492_47558494del | GRCh37 |
| NC_000021.7:g.46382920_46382922del | NCBI36 |
| NG_016191.1:g.21990_21992del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460011.6:c.-92_-90del | ENSP00000507070.1:n.-92_-90del | |
| ENST00000494498.2:c.107_109del | ENSP00000507847.1:p.Val36del | |
| ENST00000397746.8:c.1373_1375del MANE Select | ENSP00000380854.3:p.Val458del | |
| ENST00000291670.9:c.1373_1375del | ENSP00000291670.5:p.Val458del | |
| ENST00000397743.1:c.1329_1331del | ENSP00000380851.1:p.Gly444del | |
| ENST00000397746.7:c.1373_1375del | ENSP00000380854.3:p.Val458del | |
| ENST00000397748.5:c.1373_1375del | ENSP00000380856.1:p.Val458del | |
| ENST00000460011.5:n.702_704del | ||
| ENST00000488577.1:n.399_401del | ||
| ENST00000494498.1:n.674_676del | ||
| ENST00000498355.6:n.1442_1444del | ||
| NM_006657.2:c.1373_1375del | NP_006648.1:p.Val458del | |
| NM_206965.1:c.1373_1375del | NP_996848.1:p.Val458del | |
| XM_006723961.2:c.1622_1624del | XP_006724024.2:p.Val541del | |
| XM_006723962.2:c.1622_1624del | XP_006724025.2:p.Val541del | |
| XM_011529434.1:c.1622_1624del | XP_011527736.1:p.Val541del | |
| XM_011529435.1:c.1493_1495del | XP_011527737.1:p.Val498del | |
| XM_011529436.1:c.1622_1624del | XP_011527738.1:p.Val541del | |
| XM_011529437.1:c.1622_1624del | XP_011527739.1:p.Val541del | |
| XM_011529438.1:c.1493_1495del | XP_011527740.1:p.Val498del | |
| XM_011529439.1:c.1109_1111del | XP_011527741.1:p.Val370del | |
| XR_937433.1:n.1805_1807del | ||
| NM_001320412.1:c.1373_1375del | NP_001307341.1:p.Val458del | |
| XM_006723961.4:c.1622_1624del | XP_006724024.2:p.Val541del | |
| XM_006723962.4:c.1622_1624del | XP_006724025.2:p.Val541del | |
| XM_011529434.3:c.1622_1624del | XP_011527736.1:p.Val541del | |
| XM_011529435.3:c.1493_1495del | XP_011527737.1:p.Val498del | |
| XM_011529436.3:c.1622_1624del | XP_011527738.1:p.Val541del | |
| XM_011529437.3:c.1622_1624del | XP_011527739.1:p.Val541del | |
| XM_011529439.2:c.1109_1111del | XP_011527741.1:p.Val370del | |
| XR_937433.3:n.1839_1841del | ||
| NM_206965.2:c.1373_1375del MANE Select | NP_996848.1:p.Val458del | |
| NM_001320412.2:c.1373_1375del | NP_001307341.1:p.Val458del | |
| NM_006657.3:c.1373_1375del | NP_006648.1:p.Val458del |