Linked Data
ClinVar Variation Id:
513151
dbSNP Id:
rs762239322
ExAC:
19:1399114 CAGAG / C
gnomAD v2:
19-1399114-CAGAG-C
gnomAD v3:
19-1399115-CAGAG-C
gnomAD v4:
19-1399115-CAGAG-C
ERepo:
CA9043657/MONDO:0012999/026
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399119_1399122del , CM000681.2:g.1399119_1399122del | GRCh38 |
| NC_000019.9:g.1399118_1399121del , CM000681.1:g.1399118_1399121del | GRCh37 |
| NC_000019.8:g.1350118_1350121del | NCBI36 |
| NG_009785.1:g.7435_7438del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.459+9_459+12del MANE Select | ENSP00000252288.1:n.459+9_459+12del | |
| ENST00000447102.8:c.459+9_459+12del | ENSP00000403536.2:n.459+9_459+12del | |
| ENST00000591788.3:c.142+9_142+12del | ||
| ENST00000640164.1:n.292+9_292+12del | ||
| ENST00000640762.1:c.390+9_390+12del | ENSP00000492031.1:n.390+9_390+12del | |
| ENST00000252288.6:c.459+9_459+12del | ENSP00000252288.1:n.459+9_459+12del | |
| ENST00000447102.7:c.459+9_459+12del | ENSP00000403536.2:n.459+9_459+12del | |
| ENST00000591788.2:c.144+9_144+12del | ENSP00000466341.2:n.144+9_144+12del | |
| NM_000156.5:c.459+9_459+12del | NP_000147.1:n.459+9_459+12del | |
| NM_138924.2:c.459+9_459+12del | NP_620279.1:n.459+9_459+12del | |
| NM_000156.6:c.459+9_459+12del MANE Select | NP_000147.1:n.459+9_459+12del | |
| NM_138924.3:c.459+9_459+12del | NP_620279.1:n.459+9_459+12del |