Linked Data
dbSNP Id:
rs2040603103
gnomAD v3:
20-13316283-A-AATTGAT
gnomAD v4:
20-13316283-A-AATTGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13316284_13316285insTTGATA , CM000682.2:g.13316284_13316285insTTGATA | GRCh38 |
| NC_000020.10:g.13296931_13296932insTTGATA , CM000682.1:g.13296931_13296932insTTGATA | GRCh37 |
| NC_000020.9:g.13244931_13244932insTTGATA | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_937280.1:n.601-229_601-228insATCAAT | ||
| XM_017027680.1:c.878-8782_878-8781insTTGATA (ISM1) | XP_016883169.1:n.878-8782_878-8781insTTGA... | |
| XR_001754319.2:n.1282-229_1282-228insATCAAT (TASP1) |