Linked Data
dbSNP Id:
rs3220842
gnomAD v2:
22-36751045-C-CACACACACACACACAG
gnomAD v3:
22-36355000-C-CACACACACACACACAG
gnomAD v4:
22-36355000-C-CACACACACACACACAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36355001_36355002insCACACACACACACAGA , CM000684.2:g.36355001_36355002insCACACACACACACAGA | GRCh38 |
| NC_000022.10:g.36751046_36751047insCACACACACACACAGA , CM000684.1:g.36751046_36751047insCACACACACACACAGA | GRCh37 |
| NC_000022.9:g.35080992_35080993insCACACACACACACAGA | NCBI36 |
| NG_011884.2:g.38018_38019insCTGTGTGTGTGTGTGT , LRG_567:g.38018_38019insCTGTGTGTGTGTGTGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.196-5746_196-5745insCTGTGTGTGTGTGTGT | ||
| ENST00000685191.1:n.205-5746_205-5745insCTGTGTGTGTGTGTGT | ||
| ENST00000685801.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | ENSP00000510688.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| ENST00000688137.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | ENSP00000510189.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| ENST00000691296.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | ENSP00000509816.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| ENST00000691687.1:n.196-5746_196-5745insCTGTGTGTGTGTGTGT | ||
| ENST00000692930.1:n.196-5746_196-5745insCTGTGTGTGTGTGTGT | ||
| ENST00000216181.11:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT MANE Select | ENSP00000216181.6:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| ENST00000216181.9:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | ENSP00000216181.5:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| ENST00000401701.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | ENSP00000384631.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| ENST00000456729.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | ENSP00000414852.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| NM_002473.5:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT , LRG_567t1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | NP_002464.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| XM_011530197.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | XP_011528499.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| XM_011530197.2:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | XP_011528499.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| XM_017028803.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | XP_016884292.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| XM_017028804.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | XP_016884293.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| XM_017028806.1:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | XP_016884295.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT | |
| NM_002473.6:c.-19-5746_-19-5745insCTGTGTGTGTGTGTGT MANE Select | NP_002464.1:n.-19-5746_-19-5745insCTGTGTGTGTGTGTGT |