Linked Data
dbSNP Id:
rs1557473503
gnomAD v2:
1-16382142-T-TGCAACTGTAACCCTTCCCCACCCCC
gnomAD v4:
1-16055647-T-TGCAACTGTAACCCTTCCCCACCCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16055650_16055651insACTGTAACCCTTCCCCACCCCCGCA , CM000663.2:g.16055650_16055651insACTGTAACCCTTCCCCACCCCCGCA | GRCh38 |
| NC_000001.10:g.16382145_16382146insACTGTAACCCTTCCCCACCCCCGCA , CM000663.1:g.16382145_16382146insACTGTAACCCTTCCCCACCCCCGCA | GRCh37 |
| NC_000001.9:g.16254732_16254733insACTGTAACCCTTCCCCACCCCCGCA | NCBI36 |
| NG_013079.1:g.16899_16900insACTGTAACCCTTCCCCACCCCCGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682338.1:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000507062.1:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000682793.1:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000506910.1:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000682838.1:c.*1588-28_*1588-27insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000507652.1:n.*1588-28_*1588-27insACTGTAACCCTTCCCCACCCC... | |
| ENST00000683578.1:c.1846-28_1846-27insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000507430.1:n.1846-28_1846-27insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000683606.1:n.1452-28_1452-27insACTGTAACCCTTCCCCACCCCCGCA | ||
| ENST00000683661.1:n.3381-25_3381-24insACTGTAACCCTTCCCCACCCCCGCA | ||
| ENST00000684324.1:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000507937.1:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000684545.1:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000506733.1:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000684624.1:n.1223-25_1223-24insACTGTAACCCTTCCCCACCCCCGCA | ||
| ENST00000684714.1:c.*66-25_*66-24insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000506861.1:n.*66-25_*66-24insACTGTAACCCTTCCCCACCCCCGCA... | |
| ENST00000684731.1:n.1173-25_1173-24insACTGTAACCCTTCCCCACCCCCGCA | ||
| ENST00000375679.9:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA MANE Select | ENSP00000364831.5:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000375667.7:c.1339-28_1339-27insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000364819.3:n.1339-28_1339-27insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000375679.8:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000364831.4:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCG... | |
| ENST00000431772.1:c.313-28_313-27insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000389344.1:n.313-28_313-27insACTGTAACCCTTCCCCACCCCCGCA... | |
| ENST00000619181.4:c.1294-1537_1294-1536insACTGTAACCCTTCCCCACCCCCGCA | ENSP00000483866.1:n.1294-1537_1294-1536insACTGTAACCCTTCCCCACC... | |
| NM_000085.4:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | NP_000076.2:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA | |
| NM_001165945.2:c.1339-28_1339-27insACTGTAACCCTTCCCCACCCCCGCA | NP_001159417.2:n.1339-28_1339-27insACTGTAACCCTTCCCCACCCCCGCA | |
| XM_011540619.1:c.1687-25_1687-24insACTGTAACCCTTCCCCACCCCCGCA | XP_011538921.1:n.1687-25_1687-24insACTGTAACCCTTCCCCACCCCCGCA | |
| XM_011540621.1:c.1195-25_1195-24insACTGTAACCCTTCCCCACCCCCGCA | XP_011538923.1:n.1195-25_1195-24insACTGTAACCCTTCCCCACCCCCGCA | |
| NM_000085.5:c.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA MANE Select | NP_000076.2:n.1846-25_1846-24insACTGTAACCCTTCCCCACCCCCGCA |