Linked Data
ClinVar Variation Id:
3075924
ClinVar RCV Id:
RCV004018242
dbSNP Id:
rs1565631856
gnomAD v2:
11-47372942-C-CCA
gnomAD v4:
11-47351391-C-CCA
MyVariant Identifiers:
chr11:g.47372942_47372943insCA (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47351391_47351392insCA , CM000673.2:g.47351391_47351392insCA | GRCh38 |
| NC_000011.9:g.47372942_47372943insCA , CM000673.1:g.47372942_47372943insCA | GRCh37 |
| NC_000011.8:g.47329518_47329519insCA | NCBI36 |
| NG_007667.1:g.6311_6312insTG , LRG_386:g.6311_6312insTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.139_140insTG MANE Select | ENSP00000442795.1:p.Ser47MetfsTer21 | |
| ENST00000256993.8:c.139_140insTG | ENSP00000256993.5:p.Ser47MetfsTer21 | |
| ENST00000399249.6:c.139_140insTG | ENSP00000382193.2:p.Ser47MetfsTer21 | |
| ENST00000544791.1:c.139_140insTG | ENSP00000444259.1:p.Ser47MetfsTer21 | |
| ENST00000545968.5:c.139_140insTG | ENSP00000442795.1:p.Ser47MetfsTer21 | |
| NM_000256.3:c.139_140insTG , LRG_386t1:c.139_140insTG MANE Select | NP_000247.2:p.Ser47MetfsTer21 | |
| XM_011520117.1:c.139_140insTG | XP_011518419.1:p.Ser47MetfsTer21 | |
| XM_011520118.1:c.139_140insTG | XP_011518420.1:p.Ser47MetfsTer21 |