Linked Data
dbSNP Id:
rs1758421720
gnomAD v3:
6-7554082-A-AACACACGCACACACACACAC
gnomAD v4:
6-7554082-A-AACACACGCACACACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7554088_7554089insGCACACACACACACACACAC , CM000668.2:g.7554088_7554089insGCACACACACACACACACAC | GRCh38 |
| NC_000006.11:g.7554321_7554322insGCACACACACACACACACAC , CM000668.1:g.7554321_7554322insGCACACACACACACACACAC | GRCh37 |
| NC_000006.10:g.7499320_7499321insGCACACACACACACACACAC | NCBI36 |
| NG_008803.1:g.17452_17453insGCACACACACACACACACAC , LRG_423:g.17452_17453insGCACACACACACACACACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683682.2:c.171-1630_171-1629insGCACACACACACACACACAC | ENSP00000508162.2:n.171-1630_171-1629insGCACACACACACACACACAC | |
| ENST00000710359.1:c.171-1630_171-1629insGCACACACACACACACACAC | ENSP00000518230.1:n.171-1630_171-1629insGCACACACACACACACACAC | |
| ENST00000683563.1:n.63-1630_63-1629insGCACACACACACACACACAC | ||
| ENST00000683682.1:c.66-1630_66-1629insGCACACACACACACACACAC | ENSP00000508162.1:n.66-1630_66-1629insGCACACACACACACACACAC | |
| ENST00000379802.8:c.171-1630_171-1629insGCACACACACACACACACAC MANE Select | ENSP00000369129.3:n.171-1630_171-1629insGCACACACACACACACACAC | |
| ENST00000379802.7:c.171-1630_171-1629insGCACACACACACACACACAC | ENSP00000369129.3:n.171-1630_171-1629insGCACACACACACACACACAC | |
| ENST00000418664.2:c.171-1630_171-1629insGCACACACACACACACACAC | ENSP00000396591.2:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_001008844.1:c.171-1630_171-1629insGCACACACACACACACACAC | NP_001008844.1:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_004415.2:c.171-1630_171-1629insGCACACACACACACACACAC , LRG_423t1:c.171-1630_171-1629insGCACACACACACACACACAC | NP_004406.2:n.171-1630_171-1629insGCACACACACACACACACAC | |
| XM_011514323.1:c.171-1630_171-1629insGCACACACACACACACACAC | XP_011512625.1:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_001008844.2:c.171-1630_171-1629insGCACACACACACACACACAC | NP_001008844.1:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_001319034.1:c.171-1630_171-1629insGCACACACACACACACACAC | NP_001305963.1:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_004415.3:c.171-1630_171-1629insGCACACACACACACACACAC | NP_004406.2:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_004415.4:c.171-1630_171-1629insGCACACACACACACACACAC MANE Select | NP_004406.2:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_001008844.3:c.171-1630_171-1629insGCACACACACACACACACAC | NP_001008844.1:n.171-1630_171-1629insGCACACACACACACACACAC | |
| NM_001319034.2:c.171-1630_171-1629insGCACACACACACACACACAC | NP_001305963.1:n.171-1630_171-1629insGCACACACACACACACACAC |