Linked Data
ClinVar Variation Id:
227563
dbSNP Id:
rs876657510
MyVariant Identifiers:
chr11:g.47362803_47362805delinsAGG (hg19)
chr11:g.47341252_47341254delinsAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47341252_47341254delinsAGG , CM000673.2:g.47341252_47341254delinsAGG | GRCh38 |
| NC_000011.9:g.47362803_47362805delinsAGG , CM000673.1:g.47362803_47362805delinsAGG | GRCh37 |
| NC_000011.8:g.47319379_47319381delinsAGG | NCBI36 |
| NG_007667.1:g.16449_16451delinsCCT , LRG_386:g.16449_16451delinsCCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1791-10_1791-8delinsCCT MANE Select | ENSP00000442795.1:n.1791-10_1791-8delinsC... | |
| ENST00000256993.8:c.1791-10_1791-8delinsCCT | ENSP00000256993.5:n.1791-10_1791-8delinsC... | |
| ENST00000399249.6:c.1791-10_1791-8delinsCCT | ENSP00000382193.2:n.1791-10_1791-8delinsC... | |
| ENST00000544791.1:c.1791-10_1791-8delinsCCT | ENSP00000444259.1:n.1791-10_1791-8delinsC... | |
| ENST00000545968.5:c.1791-10_1791-8delinsCCT | ENSP00000442795.1:n.1791-10_1791-8delinsC... | |
| NM_000256.3:c.1791-10_1791-8delinsCCT , LRG_386t1:c.1791-10_1791-8delinsCCT MANE Select | NP_000247.2:n.1791-10_1791-8delinsCCT | |
| XM_011520117.1:c.1773-10_1773-8delinsCCT | XP_011518419.1:n.1773-10_1773-8delinsCCT | |
| XM_011520118.1:c.1791-10_1791-8delinsCCT | XP_011518420.1:n.1791-10_1791-8delinsCCT |