Linked Data
dbSNP Id:
rs2137235091
gnomAD v3:
12-47891917-C-CCCCCCCAAA
gnomAD v4:
12-47891917-C-CCCCCCCAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47891917_47891918insCCCCCCAAA , CM000674.2:g.47891917_47891918insCCCCCCAAA | GRCh38 |
| NC_000012.11:g.48285700_48285701insCCCCCCAAA , CM000674.1:g.48285700_48285701insCCCCCCAAA | GRCh37 |
| NC_000012.10:g.46571967_46571968insCCCCCCAAA | NCBI36 |
| NG_008731.1:g.18114_18115insTTTGGGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549336.6:c.-83-9144_-83-9143insTTTGGGGGG MANE Select | ENSP00000449573.2:n.-83-9144_-83-9143insTTTGGGGGG | |
| ENST00000229022.7:c.-84+7919_-84+7920insTTTGGGGGG | ENSP00000229022.3:n.-84+7919_-84+7920insTTTGGGGGG | |
| ENST00000395324.6:c.-83-9144_-83-9143insTTTGGGGGG | ENSP00000378734.2:n.-83-9144_-83-9143insTTTGGGGGG | |
| ENST00000546653.5:c.-3+7919_-3+7920insTTTGGGGGG | ENSP00000448659.1:n.-3+7919_-3+7920insTTTGGGGGG | |
| ENST00000547065.1:c.-2-12803_-2-12802insTTTGGGGGG | ENSP00000449074.1:n.-2-12803_-2-12802insTTTGGGGGG | |
| ENST00000548664.1:c.-84+7919_-84+7920insTTTGGGGGG | ENSP00000450105.1:n.-84+7919_-84+7920insTTTGGGGGG | |
| ENST00000549336.5:c.-83-9144_-83-9143insTTTGGGGGG | ENSP00000449573.1:n.-83-9144_-83-9143insTTTGGGGGG | |
| ENST00000550325.5:c.68-9144_68-9143insTTTGGGGGG | ENSP00000447173.1:n.68-9144_68-9143insTTTGGGGGG | |
| NM_000376.2:c.-83-9144_-83-9143insTTTGGGGGG | NP_000367.1:n.-83-9144_-83-9143insTTTGGGGGG | |
| NM_001017535.1:c.-84+7919_-84+7920insTTTGGGGGG | NP_001017535.1:n.-84+7919_-84+7920insTTTGGGGGG | |
| NM_001017536.1:c.68-9144_68-9143insTTTGGGGGG | NP_001017536.1:n.68-9144_68-9143insTTTGGGGGG | |
| XM_006719587.2:c.-2-12803_-2-12802insTTTGGGGGG | XP_006719650.1:n.-2-12803_-2-12802insTTTGGGGGG | |
| XM_011538720.1:c.-3+7919_-3+7920insTTTGGGGGG | XP_011537022.1:n.-3+7919_-3+7920insTTTGGGGGG | |
| NM_001364085.1:c.-83-9144_-83-9143insTTTGGGGGG | NP_001351014.1:n.-83-9144_-83-9143insTTTGGGGGG | |
| XM_006719587.3:c.-2-12803_-2-12802insTTTGGGGGG | XP_006719650.1:n.-2-12803_-2-12802insTTTGGGGGG | |
| XM_011538720.2:c.-3+7919_-3+7920insTTTGGGGGG | XP_011537022.1:n.-3+7919_-3+7920insTTTGGGGGG | |
| XM_024449178.1:c.67+12646_67+12647insTTTGGGGGG | XP_024304946.1:n.67+12646_67+12647insTTTGGGGGG | |
| NM_000376.3:c.-83-9144_-83-9143insTTTGGGGGG MANE Select | NP_000367.1:n.-83-9144_-83-9143insTTTGGGGGG | |
| NM_001017535.2:c.-84+7919_-84+7920insTTTGGGGGG | NP_001017535.1:n.-84+7919_-84+7920insTTTGGGGGG | |
| NM_001017536.2:c.68-9144_68-9143insTTTGGGGGG | NP_001017536.1:n.68-9144_68-9143insTTTGGGGGG | |
| NM_001364085.2:c.-83-9144_-83-9143insTTTGGGGGG | NP_001351014.1:n.-83-9144_-83-9143insTTTGGGGGG | |
| NM_001374661.1:c.-3+7919_-3+7920insTTTGGGGGG | NP_001361590.1:n.-3+7919_-3+7920insTTTGGGGGG | |
| NM_001374662.1:c.-2-12803_-2-12802insTTTGGGGGG | NP_001361591.1:n.-2-12803_-2-12802insTTTGGGGGG |