Linked Data
dbSNP Id:
rs781498182
ExAC:
19:45910476 A / ACAG
gnomAD v2:
19-45910476-A-ACAG
gnomAD v4:
19-45407218-A-ACAG
MyVariant Identifiers:
chr19:g.45910476_45910477insCAG (hg19)
chr19:g.45407218_45407219insCAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45407218_45407219insCAG , CM000681.2:g.45407218_45407219insCAG | GRCh38 |
| NC_000019.9:g.45910476_45910477insCAG , CM000681.1:g.45910476_45910477insCAG | GRCh37 |
| NC_000019.8:g.50602316_50602317insCAG | NCBI36 |
| NG_015839.2:g.76610_76611insCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309424.8:c.147_148insCAG MANE Select | ENSP00000310966.3:p.Ala49_Asp50insGln | |
| ENST00000309424.7:c.147_148insCAG | ENSP00000310966.3:p.Ala49_Asp50insGln | |
| ENST00000589804.1:c.153_154insCAG | ENSP00000465099.1:p.Ala51_Asp52insGln | |
| ENST00000590794.1:c.20+500_20+501insCAG | ||
| ENST00000592852.1:c.-388_-387insCAG | ENSP00000467771.1:n.-388_-387insCAG | |
| NM_001297590.1:c.153_154insCAG | NP_001284519.1:p.Ala51_Asp52insGln | |
| NM_012099.1:c.147_148insCAG | NP_036231.1:p.Ala49_Asp50insGln | |
| NM_001297590.2:c.153_154insCAG | NP_001284519.1:p.Ala51_Asp52insGln | |
| NM_012099.2:c.147_148insCAG | NP_036231.1:p.Ala49_Asp50insGln | |
| NM_001297590.3:c.153_154insCAG | NP_001284519.1:p.Ala51_Asp52insGln | |
| NM_012099.3:c.147_148insCAG MANE Select | NP_036231.1:p.Ala49_Asp50insGln |