Linked Data
dbSNP Id:
rs1565579012
gnomAD v2:
12-3218483-T-TGAGAGAGA
gnomAD v3:
12-3109317-T-TGAGAGAGA
gnomAD v4:
12-3109317-T-TGAGAGAGA
MyVariant Identifiers:
chr12:g.3218483_3218484insGAGAGAGA (hg19)
chr12:g.3109317_3109318insGAGAGAGA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109318_3109319insAGAGAGAG , CM000674.2:g.3109318_3109319insAGAGAGAG | GRCh38 |
| NC_000012.11:g.3218484_3218485insAGAGAGAG , CM000674.1:g.3218484_3218485insAGAGAGAG | GRCh37 |
| NC_000012.10:g.3088745_3088746insAGAGAGAG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25599_-18+25600insAGAGAGAG MANE Select | ENSP00000011898.5:n.-18+25599_-18+25600insAGAGAGAG | |
| ENST00000649909.1:c.-130+25599_-130+25600insAGAGAGAG | ENSP00000497370.1:n.-130+25599_-130+25600insAGAGAGAG | |
| ENST00000011898.9:c.-18+25599_-18+25600insAGAGAGAG | ENSP00000011898.5:n.-18+25599_-18+25600insAGAGAGAG | |
| ENST00000444315.6:c.-18+25599_-18+25600insAGAGAGAG | ENSP00000412908.2:n.-18+25599_-18+25600insAGAGAGAG | |
| ENST00000537971.5:c.-18+31865_-18+31866insAGAGAGAG | ENSP00000444799.1:n.-18+31865_-18+31866insAGAGAGAG | |
| NM_001168320.1:c.-18+31865_-18+31866insAGAGAGAG | NP_001161792.1:n.-18+31865_-18+31866insAGAGAGAG | |
| NM_006675.4:c.-18+25599_-18+25600insAGAGAGAG | NP_006666.1:n.-18+25599_-18+25600insAGAGAGAG | |
| XM_011520912.1:c.-349+25599_-349+25600insAGAGAGAG | XP_011519214.1:n.-349+25599_-349+25600insAGAGAGAG | |
| XM_011520912.3:c.-349+25599_-349+25600insAGAGAGAG | XP_011519214.1:n.-349+25599_-349+25600insAGAGAGAG | |
| NM_006675.5:c.-18+25599_-18+25600insAGAGAGAG MANE Select | NP_006666.1:n.-18+25599_-18+25600insAGAGAGAG | |
| NM_001168320.2:c.-18+31865_-18+31866insAGAGAGAG | NP_001161792.1:n.-18+31865_-18+31866insAGAGAGAG |