Linked Data
dbSNP Id:
rs1756204059
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGAAAGGCACTGGGTGGGGGGGCC , CM000667.2:g.1414407_1414408insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGAAAGGCACTGGGTGGGGGGGCC | GRCh38 |
| NC_000005.9:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGAAAGGCACTGGGTGGGGGGGCC , CM000667.1:g.1414522_1414523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGAAAGGCACTGGGTGGGGGGGCC | GRCh37 |
| NC_000005.8:g.1467522_1467523insGGGAGGGGCAGGGCAGGAAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGAAAGGCACTGGGTGGGGGGGCC | NCBI36 |
| NG_015885.1:g.36045_36046insCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCC MANE Select | ENSP00000270349.9:n.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCC... | |
| ENST00000270349.11:c.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCC | ENSP00000270349.9:n.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCC... | |
| NM_001044.4:c.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCC | NP_001035.1:n.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCCCCACCC... | |
| NM_001044.5:c.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCCTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTTCC MANE Select | NP_001035.1:n.1156+307_1156+308insCGCCCTGCCCCTCCCGGCCCCCCACCC... |