Linked Data
gnomAD v4:
17-41584033-T-TTCTCTCTCTCTCTCAATC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584047_41584048insAATCTCTCTCTCTCTCTC , CM000679.2:g.41584047_41584048insAATCTCTCTCTCTCTCTC | GRCh38 |
| NC_000017.10:g.39740299_39740300insAATCTCTCTCTCTCTCTC , CM000679.1:g.39740299_39740300insAATCTCTCTCTCTCTCTC | GRCh37 |
| NC_000017.9:g.36993825_36993826insAATCTCTCTCTCTCTCTC | NCBI36 |
| NG_008624.1:g.7862_7863insGATTGAGAGAGAGAGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-113_766-112insGATTGAGAGAGAGAGAGA MANE Select | ENSP00000167586.6:n.766-113_766-112insGATTGAGAGAGAGAGAGA | |
| ENST00000167586.6:c.766-113_766-112insGATTGAGAGAGAGAGAGA | ENSP00000167586.6:n.766-113_766-112insGATTGAGAGAGAGAGAGA | |
| ENST00000476662.1:n.216-113_216-112insGATTGAGAGAGAGAGAGA | ||
| NM_000526.4:c.766-113_766-112insGATTGAGAGAGAGAGAGA | NP_000517.2:n.766-113_766-112insGATTGAGAGAGAGAGAGA | |
| NM_000526.5:c.766-113_766-112insGATTGAGAGAGAGAGAGA MANE Select | NP_000517.3:n.766-113_766-112insGATTGAGAGAGAGAGAGA |