Linked Data
dbSNP Id:
rs1756216209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414462_1414463insAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGA , CM000667.2:g.1414462_1414463insAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGA | GRCh38 |
| NC_000005.9:g.1414577_1414578insAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGA , CM000667.1:g.1414577_1414578insAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGA | GRCh37 |
| NC_000005.8:g.1467577_1467578insAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGA | NCBI36 |
| NG_015885.1:g.35966_35967insTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT MANE Select | ENSP00000270349.9:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCC... | |
| ENST00000270349.11:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT | ENSP00000270349.9:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCC... | |
| NM_001044.4:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT | NP_001035.1:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCCCCAC... | |
| NM_001044.5:c.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTT MANE Select | NP_001035.1:n.1156+228_1156+229insTCTGCCCTGCCCCTCCCGGCCCCCCAC... |