Linked Data
gnomAD v4:
12-69353505-T-TTTTTTTTTTTTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353508_69353509insTTTTTTTTTGTTT , CM000674.2:g.69353508_69353509insTTTTTTTTTGTTT | GRCh38 |
| NC_000012.11:g.69747288_69747289insTTTTTTTTTGTTT , CM000674.1:g.69747288_69747289insTTTTTTTTTGTTT | GRCh37 |
| NC_000012.10:g.68033555_68033556insTTTTTTTTTGTTT | NCBI36 |
| NG_008195.1:g.10155_10156insTTTTTTTTTGTTT , LRG_768:g.10155_10156insTTTTTTTTTGTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*289_*290insTTTTTTTTTGTTT MANE Select | ENSP00000261267.2:n.*289_*290insTTTTTTTTTGTTT | |
| ENST00000261267.6:c.*289_*290insTTTTTTTTTGTTT | ENSP00000261267.2:n.*289_*290insTTTTTTTTTGTTT | |
| NM_000239.2:c.*289_*290insTTTTTTTTTGTTT , LRG_768t1:c.*289_*290insTTTTTTTTTGTTT | NP_000230.1:n.*289_*290insTTTTTTTTTGTTT | |
| NM_000239.3:c.*289_*290insTTTTTTTTTGTTT MANE Select | NP_000230.1:n.*289_*290insTTTTTTTTTGTTT |