Linked Data
ClinVar Variation Id:
375382
ClinVar RCV Id:
RCV000416450
dbSNP Id:
rs1057519442
MyVariant Identifiers:
chr1:g.101377773_101377774delinsAG (hg19)
chr1:g.100912217_100912218delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100912217_100912218delinsAG , CM000663.2:g.100912217_100912218delinsAG | GRCh38 |
| NC_000001.10:g.101377773_101377774delinsAG , CM000663.1:g.101377773_101377774delinsAG | GRCh37 |
| NC_000001.9:g.101150361_101150362delinsAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357650.9:c.490_491delinsAG MANE Select | ENSP00000350278.4:p.His164Ser | |
| ENST00000357650.8:c.490_491delinsAG | ENSP00000350278.4:p.His164Ser | |
| ENST00000370112.8:c.490_491delinsAG | ENSP00000359130.4:p.His164Ser | |
| NM_001144884.1:c.490_491delinsAG | NP_001138356.1:p.His164Ser | |
| NM_133496.4:c.490_491delinsAG | NP_598003.2:p.His164Ser | |
| XM_011540779.1:c.280_281delinsAG | XP_011539081.1:p.His94Ser | |
| XR_246237.2:n.675_676delinsAG | ||
| XM_011540779.3:c.280_281delinsAG | XP_011539081.1:p.His94Ser | |
| XM_017000400.2:c.490_491delinsAG | XP_016855889.1:p.His164Ser | |
| XM_017000401.2:c.490_491delinsAG | XP_016855890.1:p.His164Ser | |
| XR_246237.3:n.661_662delinsAG | ||
| NM_133496.5:c.490_491delinsAG MANE Select | NP_598003.2:p.His164Ser | |
| NM_001144884.2:c.490_491delinsAG | NP_001138356.1:p.His164Ser |