Linked Data
ClinVar Variation Id:
371139
ClinVar RCV Id:
RCV000410748
dbSNP Id:
rs1057517036
PubMed:
PMID:26131420
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50625936del , CM000684.2:g.50625936del | GRCh38 |
| NC_000022.10:g.51064364del , CM000684.1:g.51064364del | GRCh37 |
| NC_000022.9:g.49411230del | NCBI36 |
| NG_009260.2:g.7245del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000216124.10:c.1107+1del | ||
| ENST00000216124.9:c.1107+1del | ||
| ENST00000356098.9:c.1107+1del | ||
| ENST00000395619.3:c.1107+1del | ||
| ENST00000395621.7:c.1107+1del | ||
| ENST00000453344.6:c.849+1del | ||
| NM_000487.5:c.1107+1del | ||
| NM_001085425.2:c.1107+1del | ||
| NM_001085426.2:c.1107+1del | ||
| NM_001085427.2:c.1107+1del | ||
| NM_001085428.2:c.849+1del | ||
| XM_011530690.1:c.849+1del | ||
| XM_011530691.1:c.1107+1del | ||
| NM_001362782.1:c.849+1del | ||
| XM_011530691.3:c.1107+1del | ||
| XM_017028800.1:c.1107+1del | ||
| XM_024452241.1:c.1107+1del | ||
| NM_000487.6:c.1107+1del | ||
| NM_001085425.3:c.1107+1del | ||
| NM_001085426.3:c.1107+1del | ||
| NM_001085427.3:c.1107+1del | ||
| NM_001085428.3:c.849+1del | ||
| NM_001362782.2:c.849+1del |