Linked Data
gnomAD v3:
5-1414427-A-AGACACTGGGTGGGGGGCCGGGAGG
gnomAD v4:
5-1414427-A-AGACACTGGGTGGGGGGCCGGGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414428_1414429insACACTGGGTGGGGGGCCGGGAGGG , CM000667.2:g.1414428_1414429insACACTGGGTGGGGGGCCGGGAGGG | GRCh38 |
| NC_000005.9:g.1414543_1414544insACACTGGGTGGGGGGCCGGGAGGG , CM000667.1:g.1414543_1414544insACACTGGGTGGGGGGCCGGGAGGG | GRCh37 |
| NC_000005.8:g.1467543_1467544insACACTGGGTGGGGGGCCGGGAGGG | NCBI36 |
| NG_015885.1:g.36001_36002insCCTCCCGGCCCCCCACCCAGTGTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGTGTC MANE Select | ENSP00000270349.9:n.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGT... | |
| ENST00000270349.11:c.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGTGTC | ENSP00000270349.9:n.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGT... | |
| NM_001044.4:c.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGTGTC | NP_001035.1:n.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGTGTC | |
| NM_001044.5:c.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGTGTC MANE Select | NP_001035.1:n.1156+263_1156+264insCCTCCCGGCCCCCCACCCAGTGTC |