Linked Data
gnomAD v3:
7-150992620-C-CCCCCCCCCCCCCCCCCCCCCAAAAAA
gnomAD v4:
7-150992620-C-CCCCCCCCCCCCCCCCCCCCCAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150992620_150992621insCCCCCCCCCCCCCCCCCCCCAAAAAA , CM000669.2:g.150992620_150992621insCCCCCCCCCCCCCCCCCCCCAAAAAA | GRCh38 |
| NC_000007.13:g.150689708_150689709insCCCCCCCCCCCCCCCCCCCCAAAAAA , CM000669.1:g.150689708_150689709insCCCCCCCCCCCCCCCCCCCCAAAAAA | GRCh37 |
| NC_000007.12:g.150320641_150320642insCCCCCCCCCCCCCCCCCCCCAAAAAA | NCBI36 |
| NG_011992.1:g.6562_6563insCCCCCCCCCCCCCCCCCCCCAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCAAAAAA MANE Select | ENSP00000297494.3:n.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCA... | |
| ENST00000297494.7:c.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCAAAAAA | ENSP00000297494.3:n.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCA... | |
| ENST00000461406.5:c.-149+1320_-149+1321insCCCCCCCCCCCCCCCCCCCCAAAAAA | ENSP00000417143.1:n.-149+1320_-149+1321insCCCCCCCCCCCCCCCCCCC... | |
| NM_000603.4:c.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCAAAAAA | NP_000594.2:n.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCAAAAAA | |
| NM_000603.5:c.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCAAAAAA MANE Select | NP_000594.2:n.-51-1133_-51-1132insCCCCCCCCCCCCCCCCCCCCAAAAAA |