Linked Data
ClinVar Variation Id:
371445
ClinVar RCV Id:
RCV000411325
dbSNP Id:
rs1057517277
PubMed:
PMID:23495203
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.179128119_179128125del , CM000667.2:g.179128119_179128125del | GRCh38 |
| NC_000005.9:g.178555120_178555126del , CM000667.1:g.178555120_178555126del | GRCh37 |
| NC_000005.8:g.178487726_178487732del | NCBI36 |
| NG_023212.2:g.222205_222211del | |
| NG_023212.3:g.222205_222211del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698889.1:c.2458-6_2458del | ||
| ENST00000251582.12:c.2458-6_2458del | ||
| ENST00000518335.3:c.2458-6_2458del | ||
| ENST00000251582.11:c.2458-6_2458del | ||
| NM_014244.4:c.2458-6_2458del | ||
| NM_014244.5:c.2458-6_2458del |