Linked Data
ClinVar Variation Id:
1058445
ClinVar RCV Id:
RCV001367589
dbSNP Id:
rs1567185504
MyVariant Identifiers:
chr16:g.1412875_1412876insCCAGCACGGCATCCCCTACACGAGGCCCACAGGTGAGTCACCTGT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362875_1362919dup , CM000678.2:g.1362875_1362919dup | GRCh38 |
| NC_000016.9:g.1412876_1412920dup , CM000678.1:g.1412876_1412920dup | GRCh37 |
| NC_000016.8:g.1352877_1352921dup | NCBI36 |
| NG_016985.1:g.15977_16021dup | |
| NG_033129.1:g.56786_56830dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.891_922+13dup | ||
| ENST00000529110.2:c.876_907+13dup | ||
| ENST00000529957.6:n.850_881+13dup | ||
| ENST00000683366.1:c.*524_*555+13dup | ||
| ENST00000683887.1:c.840_871+13dup | ||
| ENST00000684100.1:n.786_817+13dup | ||
| ENST00000684126.1:n.926_957+13dup | ||
| ENST00000684688.1:n.1417_1448+13dup | ||
| ENST00000204679.9:c.792_823+13dup | ||
| ENST00000204679.8:c.792_823+13dup | ||
| ENST00000527076.1:n.2015_2046+13dup | ||
| ENST00000527168.5:n.959_990+13dup | ||
| NM_032520.4:c.792_823+13dup | ||
| XM_017023782.1:c.840_871+13dup | ||
| XM_017023783.1:c.432_463+13dup | ||
| NM_032520.5:c.792_823+13dup |