Linked Data
ClinVar Variation Id:
370686
dbSNP Id:
rs1057516686
MyVariant Identifiers:
chr17:g.7126184_7126185delinsCAC (hg19)
chr17:g.7222865_7222866delinsCAC (hg38)
ERepo:
CA16041866/MONDO:0008723/021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7222865_7222866delinsCAC , CM000679.2:g.7222865_7222866delinsCAC | GRCh38 |
| NC_000017.10:g.7126184_7126185delinsCAC , CM000679.1:g.7126184_7126185delinsCAC | GRCh37 |
| NC_000017.9:g.7066908_7066909delinsCAC | NCBI36 |
| NG_007975.1:g.8032_8033delinsCAC | |
| NG_008391.2:g.2185_2186delinsGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1077_1077+1delinsCAC | ||
| ENST00000322910.9:c.*1032_*1032+1delinsCAC | ||
| ENST00000350303.9:c.1011_1011+1delinsCAC | ||
| ENST00000356839.9:c.1077_1077+1delinsCAC | ||
| ENST00000543245.6:c.1146_1146+1delinsCAC | ||
| ENST00000578824.5:n.226_227delinsCAC | ||
| ENST00000582379.1:n.461_462delinsCAC | ||
| ENST00000583858.5:c.106_106+1delinsCAC | ||
| ENST00000585203.6:n.18_19delinsCAC | ||
| NM_000018.3:c.1077_1077+1delinsCAC | ||
| NM_001033859.2:c.1011_1011+1delinsCAC | ||
| NM_001270447.1:c.1146_1146+1delinsCAC | ||
| NM_001270448.1:c.849_849+1delinsCAC | ||
| XM_006721516.2:c.1077_1077+1delinsCAC | ||
| XM_011523829.1:c.1077_1077+1delinsCAC | ||
| XM_011523830.1:c.1077_1077+1delinsCAC | ||
| XR_934021.1:n.1184_1184+1delinsCAC | ||
| XR_934022.1:n.1184_1184+1delinsCAC | ||
| XR_934023.1:n.1184_1184+1delinsCAC | ||
| XM_006721516.3:c.1077_1077+1delinsCAC | ||
| XM_011523829.2:c.1077_1077+1delinsCAC | ||
| XM_011523830.2:c.1077_1077+1delinsCAC | ||
| XM_024450741.1:c.1077_1077+1delinsCAC | ||
| XR_934021.2:n.1136_1136+1delinsCAC | ||
| XR_934022.2:n.1136_1136+1delinsCAC | ||
| XR_934023.2:n.1136_1136+1delinsCAC | ||
| NM_000018.4:c.1077_1077+1delinsCAC | ||
| NM_001033859.3:c.1011_1011+1delinsCAC | ||
| NM_001270447.2:c.1146_1146+1delinsCAC | ||
| NM_001270448.2:c.849_849+1delinsCAC |