Linked Data
gnomAD v4:
14-23422259-C-CTTCAGGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422259_23422260insTTCAGGGT , CM000676.2:g.23422259_23422260insTTCAGGGT | GRCh38 |
| NC_000014.8:g.23891468_23891469insTTCAGGGT , CM000676.1:g.23891468_23891469insTTCAGGGT | GRCh37 |
| NC_000014.7:g.22961308_22961309insTTCAGGGT | NCBI36 |
| NG_007884.1:g.18402_18403insACCCTGAA , LRG_384:g.18402_18403insACCCTGAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3165_3166insACCCTGAA MANE Select | ENSP00000347507.3:p.Glu1056ThrfsTer7 | |
| ENST00000355349.3:c.3165_3166insACCCTGAA | ENSP00000347507.3:p.Glu1056ThrfsTer7 | |
| NM_000257.3:c.3165_3166insACCCTGAA | NP_000248.2:p.Glu1056ThrfsTer7 | |
| XR_245686.3:n.3271_3272insACCCTGAA | ||
| XM_017021340.1:c.3165_3166insACCCTGAA | XP_016876829.1:p.Glu1056ThrfsTer7 | |
| NM_000257.4:c.3165_3166insACCCTGAA MANE Select | NP_000248.2:p.Glu1056ThrfsTer7 |