Linked Data
ClinVar Variation Id:
234610
dbSNP Id:
rs876661118
COSMIC:
COSM1479027
MyVariant Identifiers:
chr16:g.68855971dupC (hg19)
chr16:g.68855967_68855968insC (hg19)
chr16:g.68822068dupC (hg38)
PubMed:
PMID:15235021
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68822068dup , CM000678.2:g.68822068dup | GRCh38 |
| NC_000016.9:g.68855971dup , CM000678.1:g.68855971dup | GRCh37 |
| NC_000016.8:g.67413472dup | NCBI36 |
| NG_008021.1:g.89777dup , LRG_301:g.89777dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.1779dup MANE Select | ENSP00000261769.4:p.Ile594HisfsTer11 | |
| ENST00000261769.9:c.1779dup | ENSP00000261769.4:p.Ile594HisfsTer11 | |
| ENST00000422392.6:c.1596dup | ENSP00000414946.2:p.Ile533HisfsTer11 | |
| ENST00000562836.5:n.1850dup | ||
| ENST00000566510.5:c.*445dup | ENSP00000458139.1:n.*445dup | |
| ENST00000566612.5:c.*19dup | ENSP00000454782.1:n.*19dup | |
| ENST00000611625.4:c.1842dup | ENSP00000481063.1:p.Ile615HisfsTer11 | |
| ENST00000612417.4:c.1779dup | ENSP00000478360.1:p.Ile594HisfsTer11 | |
| ENST00000621016.4:c.1779dup | ENSP00000480664.1:p.Ile594HisfsTer11 | |
| NM_004360.3:c.1779dup , LRG_301t1:c.1779dup | NP_004351.1:p.Ile594HisfsTer11 | |
| XM_011523488.1:c.1044dup | XP_011521790.1:p.Ile349HisfsTer11 | |
| XM_011523489.1:c.1044dup | XP_011521791.1:p.Ile349HisfsTer11 | |
| NM_001317184.1:c.1596dup | NP_001304113.1:p.Ile533HisfsTer11 | |
| NM_001317185.1:c.231dup | NP_001304114.1:p.Ile78HisfsTer11 | |
| NM_001317186.1:c.-187dup | NP_001304115.1:n.-187dup | |
| NM_004360.4:c.1779dup | NP_004351.1:p.Ile594HisfsTer11 | |
| NM_004360.5:c.1779dup MANE Select | NP_004351.1:p.Ile594HisfsTer11 | |
| NM_001317184.2:c.1596dup | NP_001304113.1:p.Ile533HisfsTer11 | |
| NM_001317185.2:c.231dup | NP_001304114.1:p.Ile78HisfsTer11 | |
| NM_001317186.2:c.-187dup | NP_001304115.1:n.-187dup |