Linked Data
ClinVar Variation Id:
228318
ClinVar RCV Id:
RCV000219883
dbSNP Id:
rs876657677
MyVariant Identifiers:
chr11:g.17568906_17568907delinsGA (hg19)
chr11:g.17547359_17547360delinsGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17547359_17547360delinsGA , CM000673.2:g.17547359_17547360delinsGA | GRCh38 |
| NC_000011.9:g.17568906_17568907delinsGA , CM000673.1:g.17568906_17568907delinsGA | GRCh37 |
| NC_000011.8:g.17525482_17525483delinsGA | NCBI36 |
| NG_011883.1:g.2057_2058delinsTC | |
| NG_033191.1:g.4987_4988delinsGA | |
| NG_011883.2:g.2057_2058delinsTC | |
| NG_033191.2:g.4987_4988delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399397.6:c.-14_-13delinsGA MANE Select | ENSP00000382329.2:n.-14_-13delinsGA | |
| NM_001277269.2:c.-14_-13delinsGA | NP_001264198.1:n.-14_-13delinsGA | |
| NM_001292063.2:c.-14_-13delinsGA MANE Select | NP_001278992.1:n.-14_-13delinsGA |