Linked Data
dbSNP Id:
rs1756213577
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC , CM000667.2:g.1414459_1414460insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC | GRCh38 |
| NC_000005.9:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC , CM000667.1:g.1414574_1414575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC | GRCh37 |
| NC_000005.8:g.1467574_1467575insAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC | NCBI36 |
| NG_015885.1:g.35982_35983insAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC MANE Select | ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTT... | |
| ENST00000270349.11:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC | ENSP00000270349.9:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTT... | |
| NM_001044.4:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC | NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCTGC... | |
| NM_001044.5:c.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCC MANE Select | NP_001035.1:n.1156+244_1156+245insAGGCCCCCCACCCAGTGCCTTCCCTGC... |