Linked Data
dbSNP Id:
rs1560912794
gnomAD v3:
5-1414406-C-CCGGGAGGGGCAGGGCAGGAAAGACA
gnomAD v4:
5-1414406-C-CCGGGAGGGGCAGGGCAGGAAAGACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGACAC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGACAC | GRCh38 |
| NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGACAC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGACAC | GRCh37 |
| NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGAAAGACAC | NCBI36 |
| NG_015885.1:g.36022_36023insTGTCTTTCCTGCCCTGCCCCTCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCTCCCG MANE Select | ENSP00000270349.9:n.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCT... | |
| ENST00000270349.11:c.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCTCCCG | ENSP00000270349.9:n.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCT... | |
| NM_001044.4:c.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCTCCCG | NP_001035.1:n.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCTCCCG | |
| NM_001044.5:c.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCTCCCG MANE Select | NP_001035.1:n.1156+284_1156+285insTGTCTTTCCTGCCCTGCCCCTCCCG |