Linked Data
dbSNP Id:
rs1363402537
gnomAD v2:
18-22056675-C-CATGA
gnomAD v4:
18-24476711-C-CATGA
MyVariant Identifiers:
chr18:g.22056675_22056676insATGA (hg19)
chr18:g.24476711_24476712insATGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24476713_24476714insGAAT , CM000680.2:g.24476713_24476714insGAAT | GRCh38 |
| NC_000018.9:g.22056677_22056678insGAAT , CM000680.1:g.22056677_22056678insGAAT | GRCh37 |
| NC_000018.8:g.20310675_20310676insGAAT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.358-34_358-33insGAAT MANE Select | ENSP00000256906.4:n.358-34_358-33insGAAT | |
| ENST00000256906.4:c.358-34_358-33insGAAT | ENSP00000256906.4:n.358-34_358-33insGAAT | |
| ENST00000426880.2:c.194-134_194-133insGAAT | ENSP00000402526.2:n.194-134_194-133insGAAT | |
| NM_001143828.1:c.194-134_194-133insGAAT | NP_001137300.1:n.194-134_194-133insGAAT | |
| NM_001160166.1:c.194-34_194-33insGAAT | NP_001153638.1:n.194-34_194-33insGAAT | |
| NM_021624.3:c.358-34_358-33insGAAT | NP_067637.2:n.358-34_358-33insGAAT | |
| XM_011526133.1:c.357+7762_357+7763insGAAT | XP_011524435.1:n.357+7762_357+7763insGAAT | |
| NM_021624.4:c.358-34_358-33insGAAT MANE Select | NP_067637.2:n.358-34_358-33insGAAT | |
| NM_001143828.2:c.194-134_194-133insGAAT | NP_001137300.1:n.194-134_194-133insGAAT | |
| NM_001160166.2:c.194-34_194-33insGAAT | NP_001153638.1:n.194-34_194-33insGAAT |