Linked Data
dbSNP Id:
rs727503806
ExAC:
1:115226990 CAA / C
gnomAD v2:
1-115226990-CAA-C
gnomAD v3:
1-114684369-CAA-C
gnomAD v4:
1-114684369-CAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684380_114684381del , CM000663.2:g.114684380_114684381del | GRCh38 |
| NC_000001.10:g.115227001_115227002del , CM000663.1:g.115227001_115227002del | GRCh37 |
| NC_000001.9:g.115028524_115028525del | NCBI36 |
| NG_008012.1:g.16185_16186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.370-7_370-6del | ENSP00000358551.4:n.370-7_370-6del | |
| ENST00000520113.7:c.382-7_382-6del MANE Select | ENSP00000430075.3:n.382-7_382-6del | |
| ENST00000637080.1:c.385-7_385-6del | ENSP00000489753.1:n.385-7_385-6del | |
| ENST00000639077.1:n.47-7_47-6del | ||
| ENST00000369538.3:c.469-7_469-6del | ENSP00000358551.3:n.469-7_469-6del | |
| ENST00000485564.3:n.256-7_256-6del | ||
| ENST00000520113.6:c.481-7_481-6del | ENSP00000430075.2:n.481-7_481-6del | |
| NM_000036.2:c.481-7_481-6del | NP_000027.2:n.481-7_481-6del | |
| NM_001172626.1:c.469-7_469-6del | NP_001166097.1:n.469-7_469-6del | |
| NM_000036.3:c.382-7_382-6del MANE Select | NP_000027.3:n.382-7_382-6del | |
| NM_001172626.2:c.370-7_370-6del | NP_001166097.2:n.370-7_370-6del |