Linked Data
ClinVar Variation Id:
294088
dbSNP Id:
rs35066000
gnomAD v2:
1-183559712-A-AT
gnomAD v3:
1-183590577-A-AT
gnomAD v4:
1-183590577-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183590577_183590578insT , CM000663.2:g.183590577_183590578insT | GRCh38 |
| NC_000001.10:g.183559712_183559713insT , CM000663.1:g.183559712_183559713insT | GRCh37 |
| NC_000001.9:g.181826335_181826336insT | NCBI36 |
| NG_007267.1:g.5004_5005insA , LRG_88:g.5004_5005insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697330.1:c.-30-219_-30-218insA (NCF2) | ENSP00000513258.1:n.-30-219_-30-218insA | |
| ENST00000697352.1:n.14_15insA (NCF2) | ||
| ENST00000697353.1:n.83+45_83+46insA (NCF2) | ||
| ENST00000367535.7:c.-249_-248insA (NCF2) | ENSP00000356505.3:n.-249_-248insA | |
| ENST00000367536.5:c.-30-219_-30-218insA (NCF2) | ENSP00000356506.1:n.-30-219_-30-218insA | |
| ENST00000413720.5:c.-249_-248insA (NCF2) | ENSP00000399294.1:n.-249_-248insA | |
| ENST00000418089.5:c.-249_-248insA (NCF2) | ENSP00000407217.1:n.-249_-248insA | |
| ENST00000495321.1:n.234-7192_234-7191insT (SMG7) | ||
| NM_000433.3:c.-249_-248insA , LRG_88t1:c.-249_-248insA (NCF2) | NP_000424.2:n.-249_-248insA | |
| NM_001127651.2:c.-30-219_-30-218insA (NCF2) | NP_001121123.1:n.-30-219_-30-218insA | |
| NM_001190789.1:c.-249_-248insA (NCF2) | NP_001177718.1:n.-249_-248insA | |
| NM_001190794.1:c.-249_-248insA (NCF2) | NP_001177723.1:n.-249_-248insA | |
| XM_011509580.1:c.-31+45_-31+46insA (NCF2) | XP_011507882.1:n.-31+45_-31+46insA | |
| XM_011509581.1:c.-87_-86insA (NCF2) | XP_011507883.1:n.-87_-86insA | |
| NM_001127651.3:c.-30-219_-30-218insA (NCF2) | NP_001121123.1:n.-30-219_-30-218insA |