Linked Data
dbSNP Id:
rs2126352419
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414480_1414481insCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG , CM000667.2:g.1414480_1414481insCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG | GRCh38 |
| NC_000005.9:g.1414595_1414596insCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG , CM000667.1:g.1414595_1414596insCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG | GRCh37 |
| NC_000005.8:g.1467595_1467596insCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG | NCBI36 |
| NG_015885.1:g.35952_35953insACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC MANE Select | ENSP00000270349.9:n.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCT... | |
| ENST00000270349.11:c.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC | ENSP00000270349.9:n.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCT... | |
| NM_001044.4:c.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC | NP_001035.1:n.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCTGCCCCT... | |
| NM_001044.5:c.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCC MANE Select | NP_001035.1:n.1156+214_1156+215insACCCAGCGCCTTCCCCGCCCTGCCCCT... |