Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414445_1414446insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.2:g.1414445_1414446insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC | GRCh38 |
| NC_000005.9:g.1414560_1414561insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC , CM000667.1:g.1414560_1414561insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC | GRCh37 |
| NC_000005.8:g.1467560_1467561insTGGAGGGTCAGGGCAGAGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCC | NCBI36 |
| NG_015885.1:g.35997_35998insCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCT... | |
| ENST00000270349.11:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAG | ENSP00000270349.9:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCT... | |
| NM_001044.4:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAG | NP_001035.1:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGC... | |
| NM_001044.5:c.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCTCTGCCCTGACCCTCCAGGCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+259_1156+260insCGCCTTCCCCGCCCTGCCCCTCCAGGC... |