Linked Data
ClinVar Variation Id:
438120
ClinVar RCV Id:
RCV000504896
dbSNP Id:
rs1557109912
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49226404_49226441del , CM000685.2:g.49226404_49226441del | GRCh38 |
| NC_000023.10:g.49082866_49082903del , CM000685.1:g.49082866_49082903del | GRCh37 |
| NC_000023.9:g.48969810_48969847del | NCBI36 |
| NG_009095.2:g.11928_11965del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323022.10:c.1433_1463+7del | ||
| ENST00000323022.9:c.1433_1463+7del | ||
| ENST00000376251.5:c.1271_1301+7del | ||
| ENST00000376265.2:c.1466_1496+7del | ||
| NM_001256789.2:c.1433_1463+7del | ||
| NM_001256790.2:c.1271_1301+7del | ||
| NM_005183.3:c.1466_1496+7del | ||
| XM_011543983.1:c.1271_1301+7del | ||
| XM_011543983.2:c.1271_1301+7del | ||
| NM_001256789.3:c.1433_1463+7del | ||
| NM_001256790.3:c.1271_1301+7del | ||
| NM_005183.4:c.1466_1496+7del |