Linked Data
ClinVar Variation Id:
187767
ClinVar RCV Id:
RCV000167524
dbSNP Id:
rs886037744
MyVariant Identifiers:
chr19:g.50364928_50364929insCGGCT (hg19)
chr19:g.49861671_49861672insCGGCT (hg38)
PubMed:
PMID:25728773
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49861671_49861672insCGGCT , CM000681.2:g.49861671_49861672insCGGCT | GRCh38 |
| NC_000019.9:g.50364928_50364929insCGGCT , CM000681.1:g.50364928_50364929insCGGCT | GRCh37 |
| NC_000019.8:g.55056740_55056741insCGGCT | NCBI36 |
| NG_027717.1:g.10894_10895insAGCCG | |
| NG_050666.1:g.17828_17829insCGGCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.1322_1323insAGCCG MANE Select | ENSP00000323511.2:p.Gly442AlafsTer27 | |
| ENST00000322344.7:c.1322_1323insAGCCG | ENSP00000323511.2:p.Gly442AlafsTer27 | |
| ENST00000593946.5:c.*1249_*1250insAGCCG | ENSP00000468896.1:n.*1249_*1250insAGCCG | |
| ENST00000594661.5:n.1823_1824insAGCCG | ||
| ENST00000595081.5:n.225_226insAGCCG | ||
| ENST00000596014.5:c.1322_1323insAGCCG | ENSP00000472300.1:p.Gly442AlafsTer27 | |
| ENST00000597965.2:c.29_30insAGCCG | ENSP00000471097.2:p.Gly11AlafsTer27 | |
| ENST00000599454.5:n.242_243insAGCCG | ||
| ENST00000600573.5:c.1229_1230insAGCCG | ENSP00000469826.1:p.Gly411AlafsTer27 | |
| ENST00000600910.5:c.1212_1213insAGCCG | ENSP00000473137.1:p.Gly405SerfsTer? | |
| ENST00000601816.3:n.297_298insAGCCG | ||
| ENST00000625216.2:c.403_404insAGCCG | ENSP00000486898.1:n.403_404insAGCCG | |
| ENST00000627232.2:c.1242_1243insAGCCG | ENSP00000486037.1:n.1242_1243insAGCCG | |
| ENST00000631020.2:c.1214_1215insAGCCG | ENSP00000486707.1:p.Gly406AlafsTer27 | |
| NM_007254.3:c.1322_1323insAGCCG | NP_009185.2:p.Gly442AlafsTer27 | |
| NM_007254.4:c.1322_1323insAGCCG MANE Select | NP_009185.2:p.Gly442AlafsTer27 |