Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC , CM000667.2:g.1414468_1414469insACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | GRCh38 |
| NC_000005.9:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC , CM000667.1:g.1414583_1414584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | GRCh37 |
| NC_000005.8:g.1467583_1467584insACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGC | NCBI36 |
| NG_015885.1:g.35968_35969insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC... | |
| ENST00000270349.11:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC | ENSP00000270349.9:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCC... | |
| NM_001044.4:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC | NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC... | |
| NM_001044.5:c.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select | NP_001035.1:n.1156+230_1156+231insTTCCCTGCCCCTCCCGGCCCCCCACCC... |