Linked Data
gnomAD v3:
5-1414498-G-GCTGGGTGGGGGGCCTGGAGGGGCAGGGAA
gnomAD v4:
5-1414498-G-GCTGGGTGGGGGGCCTGGAGGGGCAGGGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1414498_1414499insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA , CM000667.2:g.1414498_1414499insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA | GRCh38 |
| NC_000005.9:g.1414613_1414614insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA , CM000667.1:g.1414613_1414614insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA | GRCh37 |
| NC_000005.8:g.1467613_1467614insCTGGGTGGGGGGCCTGGAGGGGCAGGGAA | NCBI36 |
| NG_015885.1:g.35930_35931insTTCCCTGCCCCTCCAGGCCCCCCACCCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCC... | |
| ENST00000270349.11:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAG | ENSP00000270349.9:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCC... | |
| NM_001044.4:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAG | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCC... | |
| NM_001044.5:c.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCCAG MANE Select | NP_001035.1:n.1156+192_1156+193insTTCCCTGCCCCTCCAGGCCCCCCACCC... |