Linked Data
ClinVar Variation Id:
769
ClinVar RCV Id:
RCV000000805
dbSNP Id:
rs397509364
PubMed:
PMID:18385497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149571082_149571085del , CM000664.2:g.149571082_149571085del | GRCh38 |
| NC_000002.11:g.150427596_150427599del , CM000664.1:g.150427596_150427599del | GRCh37 |
| NC_000002.10:g.150135842_150135845del | NCBI36 |
| NG_009189.1:g.21735_21738del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303319.10:c.696+3_696+6del | ||
| ENST00000303319.9:c.696+3_696+6del | ||
| ENST00000422782.2:c.798+3_798+6del | ||
| ENST00000428879.5:c.696+3_696+6del | ||
| NM_015702.2:c.696+3_696+6del | ||
| NM_015702.3:c.696+3_696+6del |