Linked Data
ClinVar Variation Id:
2682169
ClinVar RCV Id:
RCV003479542
ERepo:
CA16020833/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855177_102855353del , CM000674.2:g.102855177_102855353del | GRCh38 |
| NC_000012.11:g.103248955_103249131del , CM000674.1:g.103248955_103249131del | GRCh37 |
| NC_000012.10:g.101773085_101773261del | NCBI36 |
| NG_008690.1:g.67252_67428del | |
| NG_008690.2:g.108060_108236del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.510-19_667del | ||
| ENST00000307000.7:c.495-19_652del | ||
| ENST00000549111.5:n.606-19_763del | ||
| ENST00000553106.5:c.510-19_667del | ||
| NM_000277.1:c.510-19_667del | ||
| XM_011538422.1:c.510-19_667del | ||
| NM_000277.2:c.510-19_667del | ||
| NM_001354304.1:c.510-19_667del | ||
| XM_017019370.2:c.510-19_667del | ||
| NM_000277.3:c.510-19_667del | ||
| NM_001354304.2:c.510-19_667del |