Linked Data
dbSNP Id:
rs1226380985
gnomAD v3:
12-3109268-CTGTGTGTGTGTGTGTG-C
gnomAD v4:
12-3109268-CTGTGTGTGTGTGTGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.3109285_3109300del , CM000674.2:g.3109285_3109300del | GRCh38 |
| NC_000012.11:g.3218451_3218466del , CM000674.1:g.3218451_3218466del | GRCh37 |
| NC_000012.10:g.3088712_3088727del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011898.10:c.-18+25566_-18+25581del MANE Select | ENSP00000011898.5:n.-18+25566_-18+25581del | |
| ENST00000649909.1:c.-130+25566_-130+25581del | ENSP00000497370.1:n.-130+25566_-130+25581del | |
| ENST00000011898.9:c.-18+25566_-18+25581del | ENSP00000011898.5:n.-18+25566_-18+25581del | |
| ENST00000444315.6:c.-18+25566_-18+25581del | ENSP00000412908.2:n.-18+25566_-18+25581del | |
| ENST00000537971.5:c.-18+31832_-18+31847del | ENSP00000444799.1:n.-18+31832_-18+31847del | |
| NM_001168320.1:c.-18+31832_-18+31847del | NP_001161792.1:n.-18+31832_-18+31847del | |
| NM_006675.4:c.-18+25566_-18+25581del | NP_006666.1:n.-18+25566_-18+25581del | |
| XM_011520912.1:c.-349+25566_-349+25581del | XP_011519214.1:n.-349+25566_-349+25581del | |
| XM_011520912.3:c.-349+25566_-349+25581del | XP_011519214.1:n.-349+25566_-349+25581del | |
| NM_006675.5:c.-18+25566_-18+25581del MANE Select | NP_006666.1:n.-18+25566_-18+25581del | |
| NM_001168320.2:c.-18+31832_-18+31847del | NP_001161792.1:n.-18+31832_-18+31847del |