Linked Data
ClinVar Variation Id:
362783
ClinVar RCV Id:
RCV000277003
dbSNP Id:
rs886062880
MyVariant Identifiers:
chr8:g.30891277dupG (hg19)
chr8:g.30891272_30891273insG (hg19)
chr8:g.31033761dupG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033761dup , CM000670.2:g.31033761dup | GRCh38 |
| NC_000008.10:g.30891277dup , CM000670.1:g.30891277dup | GRCh37 |
| NC_000008.9:g.31010819dup | NCBI36 |
| NG_008870.1:g.5500dup , LRG_524:g.5500dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000553.4:c.-289dup , LRG_524t1:c.-289dup | NP_000544.2:n.-289dup | |
| NM_000553.5:c.-289dup | NP_000544.2:n.-289dup | |
| XM_011544639.3:c.-289dup | XP_011542941.1:n.-289dup | |
| XR_949470.3:n.13dup | ||
| XR_949471.3:n.13dup | ||
| XR_949472.3:n.13dup |