Linked Data
dbSNP Id:
rs1756207088
gnomAD v3:
5-1414406-C-CAGGGCAGGAAAGGCACTGTGTGGGGGGGG
gnomAD v4:
5-1414406-C-CAGGGCAGGAAAGGCACTGTGTGGGGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414406_1414407insAGGGCAGGAAAGGCACTGTGTGGGGGGGG , CM000667.2:g.1414406_1414407insAGGGCAGGAAAGGCACTGTGTGGGGGGGG | GRCh38 |
| NC_000005.9:g.1414521_1414522insAGGGCAGGAAAGGCACTGTGTGGGGGGGG , CM000667.1:g.1414521_1414522insAGGGCAGGAAAGGCACTGTGTGGGGGGGG | GRCh37 |
| NC_000005.8:g.1467521_1467522insAGGGCAGGAAAGGCACTGTGTGGGGGGGG | NCBI36 |
| NG_015885.1:g.36022_36023insCCCCCCCCACACAGTGCCTTTCCTGCCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+284_1156+285insCCCCCCCCACACAGTGCCTTTCCTGCCCT MANE Select | ENSP00000270349.9:n.1156+284_1156+285insCCCCCCCCACACAGTGCCTTT... | |
| ENST00000270349.11:c.1156+284_1156+285insCCCCCCCCACACAGTGCCTTTCCTGCCCT | ENSP00000270349.9:n.1156+284_1156+285insCCCCCCCCACACAGTGCCTTT... | |
| NM_001044.4:c.1156+284_1156+285insCCCCCCCCACACAGTGCCTTTCCTGCCCT | NP_001035.1:n.1156+284_1156+285insCCCCCCCCACACAGTGCCTTTCCTGCC... | |
| NM_001044.5:c.1156+284_1156+285insCCCCCCCCACACAGTGCCTTTCCTGCCCT MANE Select | NP_001035.1:n.1156+284_1156+285insCCCCCCCCACACAGTGCCTTTCCTGCC... |