Linked Data
gnomAD v3:
5-1414406-C-CCGGGAGGGGCAGGGCAGGGAAGGCG
gnomAD v4:
5-1414406-C-CCGGGAGGGGCAGGGCAGGGAAGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGGAAGGCGC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGGAAGGCGC | GRCh38 |
| NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGGAAGGCGC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGGAAGGCGC | GRCh37 |
| NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGGAAGGCGC | NCBI36 |
| NG_015885.1:g.36022_36023insCGCCTTCCCTGCCCTGCCCCTCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCTCCCG MANE Select | ENSP00000270349.9:n.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCT... | |
| ENST00000270349.11:c.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCTCCCG | ENSP00000270349.9:n.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCT... | |
| NM_001044.4:c.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCTCCCG | NP_001035.1:n.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCTCCCG | |
| NM_001044.5:c.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCTCCCG MANE Select | NP_001035.1:n.1156+284_1156+285insCGCCTTCCCTGCCCTGCCCCTCCCG |