Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.2:g.1414423_1414424insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAG | GRCh38 |
| NC_000005.9:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAG , CM000667.1:g.1414538_1414539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAG | GRCh37 |
| NC_000005.8:g.1467538_1467539insGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGGCCGGGAGGGGCAGGGCAG | NCBI36 |
| NG_015885.1:g.36006_36007insTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select | ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC... | |
| ENST00000270349.11:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC | ENSP00000270349.9:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCC... | |
| NM_001044.4:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC | NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCCACC... | |
| NM_001044.5:c.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC MANE Select | NP_001035.1:n.1156+268_1156+269insTGCCCTGCCCCTCCCGGCCCCCCCACC... |