Linked Data
ClinVar Variation Id:
182741
dbSNP Id:
rs730881868
MyVariant Identifiers:
chr16:g.23637660_23637663dupCAAC (hg19)
chr16:g.23637659_23637660insCAAC (hg19)
chr16:g.23626339_23626342dupCAAC (hg38)
chr16:g.23626338_23626339insCAAC (hg38)
PubMed:
PMID:26681312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23626340_23626343dup , CM000678.2:g.23626340_23626343dup | GRCh38 |
| NC_000016.9:g.23637661_23637664dup , CM000678.1:g.23637661_23637664dup | GRCh37 |
| NC_000016.8:g.23545162_23545165dup | NCBI36 |
| NG_007406.1:g.20016_20019dup , LRG_308:g.20016_20019dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.2648_2651dup | ENSP00000460666.3:p.Cys884TrpfsTer3 | |
| ENST00000565038.2:c.*123_*126dup | ENSP00000459882.2:n.*123_*126dup | |
| ENST00000566069.6:c.2642_2645dup | ENSP00000459237.2:p.Cys882TrpfsTer3 | |
| ENST00000697377.2:c.2593-2248_2593-2245dup | ENSP00000513286.2:n.2593-2248_2593-2245dup | |
| ENST00000697379.2:c.2648_2651dup | ENSP00000513287.2:p.Cys884TrpfsTer3 | |
| ENST00000561514.2:c.1757_1760dup | ENSP00000460666.2:p.Cys587TrpfsTer3 | |
| ENST00000697374.1:c.1757_1760dup | ENSP00000513284.1:p.Cys587TrpfsTer3 | |
| ENST00000697375.1:n.3989_3992dup | ||
| ENST00000697376.1:c.1757_1760dup | ENSP00000513285.1:p.Cys587TrpfsTer3 | |
| ENST00000697377.1:c.1702-2248_1702-2245dup | ENSP00000513286.1:n.1702-2248_1702-2245dup | |
| ENST00000697378.1:n.3162_3165dup | ||
| ENST00000697379.1:c.1757_1760dup | ENSP00000513287.1:p.Cys587TrpfsTer3 | |
| ENST00000697380.1:n.1934_1937dup | ||
| ENST00000697381.1:n.1337_1340dup | ||
| ENST00000697382.1:c.1757_1760dup | ENSP00000513288.1:p.Cys587TrpfsTer3 | |
| ENST00000697383.1:c.176_179dup | ENSP00000513289.1:p.Cys60TrpfsTer3 | |
| ENST00000261584.9:c.2642_2645dup MANE Select | ENSP00000261584.4:p.Cys882TrpfsTer3 | |
| ENST00000261584.8:c.2642_2645dup | ENSP00000261584.4:p.Cys882TrpfsTer3 | |
| ENST00000565038.1:c.214_217dup | ||
| ENST00000568219.5:c.1757_1760dup | ENSP00000454703.2:p.Cys587TrpfsTer3 | |
| NM_024675.3:c.2642_2645dup , LRG_308t1:c.2642_2645dup | NP_078951.2:p.Cys882TrpfsTer3 | |
| XM_011545946.1:c.2648_2651dup | XP_011544248.1:p.Cys884TrpfsTer3 | |
| XM_011545947.1:c.2648_2651dup | XP_011544249.1:p.Cys884TrpfsTer3 | |
| XM_011545948.1:c.1757_1760dup | XP_011544250.1:p.Cys587TrpfsTer3 | |
| XR_950851.1:n.3438_3441dup | ||
| XM_011545946.2:c.2648_2651dup | XP_011544248.1:p.Cys884TrpfsTer3 | |
| XM_011545947.2:c.2648_2651dup | XP_011544249.1:p.Cys884TrpfsTer3 | |
| XM_011545948.2:c.1757_1760dup | XP_011544250.1:p.Cys587TrpfsTer3 | |
| XM_017023671.1:c.2648_2651dup | XP_016879160.1:p.Cys884TrpfsTer3 | |
| XM_017023672.2:c.2642_2645dup | XP_016879161.1:p.Cys882TrpfsTer3 | |
| XM_017023673.2:c.2642_2645dup | XP_016879162.1:p.Cys882TrpfsTer3 | |
| NM_024675.4:c.2642_2645dup MANE Select | NP_078951.2:p.Cys882TrpfsTer3 |