Linked Data
gnomAD v4:
17-75516250-T-TAAGGGAAGCGGGGGCGAGGCGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75516250_75516251insAAGGGAAGCGGGGGCGAGGCGG , CM000679.2:g.75516250_75516251insAAGGGAAGCGGGGGCGAGGCGG | GRCh38 |
| NC_000017.10:g.73512331_73512332insAAGGGAAGCGGGGGCGAGGCGG , CM000679.1:g.73512331_73512332insAAGGGAAGCGGGGGCGAGGCGG | GRCh37 |
| NC_000017.9:g.71023926_71023927insAAGGGAAGCGGGGGCGAGGCGG | NCBI36 |
| NG_013041.1:g.4723_4724insAAGGGAAGCGGGGGCGAGGCGG | |
| NG_033152.1:g.4333_4334insCCGCCTCGCCCCCGCTTCCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434205.8:c.-219_-218insAAGGGAAGCGGGGGCGAGGCGG | ENSP00000406559.4:n.-219_-218insAAGGGAAGCGGGGGCGAGGCGG | |
| ENST00000679370.1:n.307_308insAAGGGAAGCGGGGGCGAGGCGG | ||
| ENST00000434205.7:c.-219_-218insAAGGGAAGCGGGGGCGAGGCGG | ENSP00000406559.3:n.-219_-218insAAGGGAAGCGGGGGCGAGGCGG | |
| XM_006721821.2:c.-384_-383insAAGGGAAGCGGGGGCGAGGCGG | XP_006721884.1:n.-384_-383insAAGGGAAGCGGGGGCGAGGCGG |