Linked Data
gnomAD v3:
17-8159235-A-AGGGGGGGGGGGAGGGGGGGGGGG
gnomAD v4:
17-8159235-A-AGGGGGGGGGGGAGGGGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8159239_8159240insGGGGGGGAGGGGGGGGGGGGGGG , CM000679.2:g.8159239_8159240insGGGGGGGAGGGGGGGGGGGGGGG | GRCh38 |
| NC_000017.10:g.8062557_8062558insGGGGGGGAGGGGGGGGGGGGGGG , CM000679.1:g.8062557_8062558insGGGGGGGAGGGGGGGGGGGGGGG | GRCh37 |
| NC_000017.9:g.8003282_8003283insGGGGGGGAGGGGGGGGGGGGGGG | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316509.11:c.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC MANE Select | ENSP00000314214.6:n.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | |
| ENST00000316509.10:c.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | ENSP00000314214.6:n.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | |
| ENST00000498285.1:c.334+2237_334+2238insCCCCCCCCCCCTCCCCCCCCCCC | ENSP00000464383.1:n.334+2237_334+2238insCCCCCCCCCCCTCCCCCCCCC... | |
| NM_014232.2:c.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | NP_055047.2:n.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | |
| NM_001330125.1:c.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | NP_001317054.1:n.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC | |
| NM_014232.3:c.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC MANE Select | NP_055047.2:n.*1619_*1620insCCCCCCCCCCCTCCCCCCCCCCC |