Linked Data
ClinVar Variation Id:
1537442
ClinVar RCV Id:
RCV002166963
dbSNP Id:
rs1411846723
gnomAD v4:
8-31141787-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31141788del , CM000670.2:g.31141788del | GRCh38 |
| NC_000008.10:g.30999304del , CM000670.1:g.30999304del | GRCh37 |
| NC_000008.9:g.31118846del | NCBI36 |
| NG_008870.1:g.113527del , LRG_524:g.113527del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.3233+13del MANE Select | ENSP00000298139.5:n.3233+13del | |
| ENST00000650667.1:c.*2847+13del | ENSP00000498593.1:n.*2847+13del | |
| ENST00000298139.5:c.3233+13del | ENSP00000298139.5:n.3233+13del | |
| ENST00000521620.5:n.1866+13del | ||
| NM_000553.4:c.3233+13del , LRG_524t1:c.3233+13del | NP_000544.2:n.3233+13del | |
| XM_011544639.1:c.3152+13del | XP_011542941.1:n.3152+13del | |
| XM_011544640.1:c.1634+13del | XP_011542942.1:n.1634+13del | |
| XR_949470.1:n.3506+13del | ||
| XR_949471.1:n.3506+13del | ||
| XR_949472.1:n.3506+13del | ||
| NM_000553.5:c.3233+13del | NP_000544.2:n.3233+13del | |
| XM_011544639.3:c.3152+13del | XP_011542941.1:n.3152+13del | |
| XM_024447265.1:c.3023+13del | XP_024303033.1:n.3023+13del | |
| XR_949470.3:n.3534+13del | ||
| XR_949471.3:n.3534+13del | ||
| XR_949472.3:n.3534+13del | ||
| NM_000553.6:c.3233+13del MANE Select | NP_000544.2:n.3233+13del |