Linked Data
ClinVar Variation Id:
1327563
ClinVar RCV Id:
RCV001789825
ERepo:
CA251545/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843648_102846953del , CM000674.2:g.102843648_102846953del | GRCh38 |
| NC_000012.11:g.103237426_103240731del , CM000674.1:g.103237426_103240731del | GRCh37 |
| NC_000012.10:g.101761556_101764861del | NCBI36 |
| NG_008690.2:g.116461_119766del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.914_1199+1del | ||
| ENST00000307000.7:c.899_1184+1del | ||
| ENST00000549247.6:n.673_958+1del | ||
| ENST00000551114.2:n.576_861+1del | ||
| ENST00000553106.5:c.914_1199+1del | ||
| ENST00000635477.1:c.74-2519_303+1del | ||
| ENST00000635528.1:n.429_714+1del | ||
| XM_011538422.1:c.913-2519_1142+1del | ||
| NM_000277.2:c.914_1199+1del | ||
| NM_001354304.1:c.914_1199+1del | ||
| NM_000277.3:c.914_1199+1del | ||
| NM_001354304.2:c.914_1199+1del |