Linked Data
dbSNP Id:
rs2098316793
gnomAD v3:
12-3109281-TGTGTGTGTGTGTGTGTGTGAGAGAGA-T
gnomAD v4:
12-3109281-TGTGTGTGTGTGTGTGTGTGAGAGAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109301_3109326del , CM000674.2:g.3109301_3109326del | GRCh38 |
| NC_000012.11:g.3218467_3218492del , CM000674.1:g.3218467_3218492del | GRCh37 |
| NC_000012.10:g.3088728_3088753del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25582_-18+25607del MANE Select | ENSP00000011898.5:n.-18+25582_-18+25607del | |
| ENST00000649909.1:c.-130+25582_-130+25607del | ENSP00000497370.1:n.-130+25582_-130+25607del | |
| ENST00000011898.9:c.-18+25582_-18+25607del | ENSP00000011898.5:n.-18+25582_-18+25607del | |
| ENST00000444315.6:c.-18+25582_-18+25607del | ENSP00000412908.2:n.-18+25582_-18+25607del | |
| ENST00000537971.5:c.-18+31848_-18+31873del | ENSP00000444799.1:n.-18+31848_-18+31873del | |
| NM_001168320.1:c.-18+31848_-18+31873del | NP_001161792.1:n.-18+31848_-18+31873del | |
| NM_006675.4:c.-18+25582_-18+25607del | NP_006666.1:n.-18+25582_-18+25607del | |
| XM_011520912.1:c.-349+25582_-349+25607del | XP_011519214.1:n.-349+25582_-349+25607del | |
| XM_011520912.3:c.-349+25582_-349+25607del | XP_011519214.1:n.-349+25582_-349+25607del | |
| NM_006675.5:c.-18+25582_-18+25607del MANE Select | NP_006666.1:n.-18+25582_-18+25607del | |
| NM_001168320.2:c.-18+31848_-18+31873del | NP_001161792.1:n.-18+31848_-18+31873del |