Linked Data
ClinVar Variation Id:
133844
ClinVar RCV Id:
RCV000120496
dbSNP Id:
rs587778169
MyVariant Identifiers:
chr16:g.68771342_68771343delinsGC (hg19)
chr16:g.68737439_68737440delinsGC (hg38)
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737439_68737440delinsGC , CM000678.2:g.68737439_68737440delinsGC | GRCh38 |
| NC_000016.9:g.68771342_68771343delinsGC , CM000678.1:g.68771342_68771343delinsGC | GRCh37 |
| NC_000016.8:g.67328843_67328844delinsGC | NCBI36 |
| NG_008021.1:g.5148_5149delinsGC , LRG_301:g.5148_5149delinsGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.24_25delinsGC MANE Select | ENSP00000261769.4:p.Ser9Pro | |
| ENST00000261769.9:c.24_25delinsGC | ENSP00000261769.4:p.Ser9Pro | |
| ENST00000422392.6:c.24_25delinsGC | ENSP00000414946.2:p.Ser9Pro | |
| ENST00000566510.5:c.24_25delinsGC | ENSP00000458139.1:p.Ser9Pro | |
| ENST00000566612.5:c.24_25delinsGC | ENSP00000454782.1:p.Ser9Pro | |
| ENST00000611625.4:c.24_25delinsGC | ENSP00000481063.1:p.Ser9Pro | |
| ENST00000612417.4:c.24_25delinsGC | ENSP00000478360.1:p.Ser9Pro | |
| ENST00000621016.4:c.24_25delinsGC | ENSP00000480664.1:p.Ser9Pro | |
| NM_004360.3:c.24_25delinsGC , LRG_301t1:c.24_25delinsGC | NP_004351.1:p.Ser9Pro | |
| NM_001317184.1:c.24_25delinsGC | NP_001304113.1:p.Ser9Pro | |
| NM_001317185.1:c.-1592_-1591delinsGC | NP_001304114.1:n.-1592_-1591delinsGC | |
| NM_001317186.1:c.-1796_-1795delinsGC | NP_001304115.1:n.-1796_-1795delinsGC | |
| NM_004360.4:c.24_25delinsGC | NP_004351.1:p.Ser9Pro | |
| NM_004360.5:c.24_25delinsGC MANE Select | NP_004351.1:p.Ser9Pro | |
| NM_001317184.2:c.24_25delinsGC | NP_001304113.1:p.Ser9Pro | |
| NM_001317185.2:c.-1592_-1591delinsGC | NP_001304114.1:n.-1592_-1591delinsGC | |
| NM_001317186.2:c.-1796_-1795delinsGC | NP_001304115.1:n.-1796_-1795delinsGC |