Linked Data
gnomAD v4:
12-69353504-T-TTTTTTTTTTTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353508_69353509insTTTTTTATTTT , CM000674.2:g.69353508_69353509insTTTTTTATTTT | GRCh38 |
| NC_000012.11:g.69747288_69747289insTTTTTTATTTT , CM000674.1:g.69747288_69747289insTTTTTTATTTT | GRCh37 |
| NC_000012.10:g.68033555_68033556insTTTTTTATTTT | NCBI36 |
| NG_008195.1:g.10155_10156insTTTTTTATTTT , LRG_768:g.10155_10156insTTTTTTATTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*289_*290insTTTTTTATTTT MANE Select | ENSP00000261267.2:n.*289_*290insTTTTTTATTTT | |
| ENST00000261267.6:c.*289_*290insTTTTTTATTTT | ENSP00000261267.2:n.*289_*290insTTTTTTATTTT | |
| NM_000239.2:c.*289_*290insTTTTTTATTTT , LRG_768t1:c.*289_*290insTTTTTTATTTT | NP_000230.1:n.*289_*290insTTTTTTATTTT | |
| NM_000239.3:c.*289_*290insTTTTTTATTTT MANE Select | NP_000230.1:n.*289_*290insTTTTTTATTTT |