Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414462_1414463insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG , CM000667.2:g.1414462_1414463insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG | GRCh38 |
| NC_000005.9:g.1414577_1414578insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG , CM000667.1:g.1414577_1414578insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG | GRCh37 |
| NC_000005.8:g.1467577_1467578insAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGG | NCBI36 |
| NG_015885.1:g.35968_35969insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC MANE Select | ENSP00000270349.9:n.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCC... | |
| ENST00000270349.11:c.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC | ENSP00000270349.9:n.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCC... | |
| NM_001044.4:c.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC | NP_001035.1:n.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCC... | |
| NM_001044.5:c.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCC MANE Select | NP_001035.1:n.1156+230_1156+231insTGCCCTGCCCCTCCCGGCCCCCCACCC... |