Linked Data
dbSNP Id:
rs1560912794
gnomAD v3:
5-1414406-C-CCGGGAGGGGCAGGGCGGGGAAGGCG
gnomAD v4:
5-1414406-C-CCGGGAGGGGCAGGGCGGGGAAGGCG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCGGGGAAGGCGC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCGGGGAAGGCGC | GRCh38 |
| NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCGGGGAAGGCGC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCGGGGAAGGCGC | GRCh37 |
| NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCGGGGAAGGCGC | NCBI36 |
| NG_015885.1:g.36022_36023insCGCCTTCCCCGCCCTGCCCCTCCCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCTCCCG MANE Select | ENSP00000270349.9:n.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCT... | |
| ENST00000270349.11:c.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCTCCCG | ENSP00000270349.9:n.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCT... | |
| NM_001044.4:c.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCTCCCG | NP_001035.1:n.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCTCCCG | |
| NM_001044.5:c.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCTCCCG MANE Select | NP_001035.1:n.1156+284_1156+285insCGCCTTCCCCGCCCTGCCCCTCCCG |