Linked Data
gnomAD v4:
1-1535807-G-GCAGGGCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535813_1535814insACCAGGGC , CM000663.2:g.1535813_1535814insACCAGGGC | GRCh38 |
| NC_000001.10:g.1471193_1471194insACCAGGGC , CM000663.1:g.1471193_1471194insACCAGGGC | GRCh37 |
| NC_000001.9:g.1461056_1461057insACCAGGGC | NCBI36 |
| NG_041807.1:g.9553_9554insGTGCCCTG | |
| NG_053035.1:g.28671_28672insACCAGGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.165-11_165-10insGTGCCCTG MANE Select | ENSP00000368007.4:n.165-11_165-10insGTGCCCTG | |
| ENST00000378733.8:c.165-11_165-10insGTGCCCTG | ENSP00000368007.4:n.165-11_165-10insGTGCCCTG | |
| ENST00000425828.1:c.165-11_165-10insGTGCCCTG | ENSP00000400311.1:n.165-11_165-10insGTGCCCTG | |
| NM_001114748.1:c.165-11_165-10insGTGCCCTG | NP_001108220.1:n.165-11_165-10insGTGCCCTG | |
| NM_001114748.2:c.165-11_165-10insGTGCCCTG MANE Select | NP_001108220.1:n.165-11_165-10insGTGCCCTG |