Linked Data
ClinVar Variation Id:
165178
ClinVar RCV Id:
RCV004017424
dbSNP Id:
rs727503414
MyVariant Identifiers:
chr1:g.17345192_17345217delinsTTGGGGCAAGTAAAGGAACAGGTTC (hg19)
chr1:g.17018697_17018722delinsTTGGGGCAAGTAAAGGAACAGGTTC (hg38)
PubMed:
PMID:25800244
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018697_17018722delinsTTGGGGCAAGTAAAGGAACAGGTTC , CM000663.2:g.17018697_17018722delinsTTGGGGCAAGTAAAGGAACAGGTTC | GRCh38 |
| NC_000001.10:g.17345192_17345217delinsTTGGGGCAAGTAAAGGAACAGGTTC , CM000663.1:g.17345192_17345217delinsTTGGGGCAAGTAAAGGAACAGGTTC | GRCh37 |
| NC_000001.9:g.17217779_17217804delinsTTGGGGCAAGTAAAGGAACAGGTTC | NCBI36 |
| NG_012340.1:g.40449_40474delinsGAACCTGTTCCTTTACTTGCCCCAA , LRG_316:g.40449_40474delinsGAACCTGTTCCTTTACTTGCCCCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000491274.6:c.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA | ENSP00000480482.2:n.*159_*184delinsGAACCTGTTCCTTTACTTGCCCCAA |