Linked Data
gnomAD v4:
6-31269997-G-GCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269997_31269998insCC , CM000668.2:g.31269997_31269998insCC | GRCh38 |
| NC_000006.11:g.31237774_31237775insCC , CM000668.1:g.31237774_31237775insCC | GRCh37 |
| NC_000006.10:g.31345753_31345754insCC | NCBI36 |
| NG_029422.2:g.7134_7135insGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.983_984insGG MANE Select | ENSP00000365402.5:p.Thr329AlafsTer4 | |
| ENST00000376228.9:c.983_984insGG | ENSP00000365402.5:p.Thr329AlafsTer4 | |
| ENST00000376237.8:c.*570_*571insGG | ENSP00000365412.4:n.*570_*571insGG | |
| ENST00000383329.7:c.983_984insGG | ENSP00000372819.3:p.Thr329AlafsTer4 | |
| ENST00000470363.5:n.301_302insGG | ||
| ENST00000487245.5:n.1342_1343insGG | ||
| NM_002117.5:c.983_984insGG | NP_002108.4:p.Thr329AlafsTer4 | |
| NM_002117.6:c.983_984insGG MANE Select | NP_002108.4:p.Thr329AlafsTer4 |