Linked Data
gnomAD v3:
5-67184176-T-TTGAATCAAAAGCCCCAAGCAGAAGAC
gnomAD v4:
5-67184176-T-TTGAATCAAAAGCCCCAAGCAGAAGAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.67184176_67184177insTGAATCAAAAGCCCCAAGCAGAAGAC , CM000667.2:g.67184176_67184177insTGAATCAAAAGCCCCAAGCAGAAGAC | GRCh38 |
| NC_000005.9:g.66480004_66480005insTGAATCAAAAGCCCCAAGCAGAAGAC , CM000667.1:g.66480004_66480005insTGAATCAAAAGCCCCAAGCAGAAGAC | GRCh37 |
| NC_000005.8:g.66515760_66515761insTGAATCAAAAGCCCCAAGCAGAAGAC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256447.5:c.666_667insGTCTTCTGCTTGGGGCTTTTGATTCA MANE Select | ENSP00000256447.4:p.Ile223ValfsTer14 | |
| NM_005582.2:c.666_667insGTCTTCTGCTTGGGGCTTTTGATTCA | NP_005573.2:p.Ile223ValfsTer14 | |
| XM_005248504.3:c.627_628insGTCTTCTGCTTGGGGCTTTTGATTCA | XP_005248561.1:p.Ile210ValfsTer14 | |
| XM_005248504.4:c.627_628insGTCTTCTGCTTGGGGCTTTTGATTCA | XP_005248561.1:p.Ile210ValfsTer14 | |
| NM_005582.3:c.666_667insGTCTTCTGCTTGGGGCTTTTGATTCA MANE Select | NP_005573.2:p.Ile223ValfsTer14 |