Linked Data
gnomAD v4:
12-69353493-C-CTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.69353493_69353494insTTTTTTTTTTTTTTT , CM000674.2:g.69353493_69353494insTTTTTTTTTTTTTTT | GRCh38 |
| NC_000012.11:g.69747273_69747274insTTTTTTTTTTTTTTT , CM000674.1:g.69747273_69747274insTTTTTTTTTTTTTTT | GRCh37 |
| NC_000012.10:g.68033540_68033541insTTTTTTTTTTTTTTT | NCBI36 |
| NG_008195.1:g.10140_10141insTTTTTTTTTTTTTTT , LRG_768:g.10140_10141insTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261267.7:c.*274_*275insTTTTTTTTTTTTTTT MANE Select | ENSP00000261267.2:n.*274_*275insTTTTTTTTTTTTTTT | |
| ENST00000261267.6:c.*274_*275insTTTTTTTTTTTTTTT | ENSP00000261267.2:n.*274_*275insTTTTTTTTTTTTTTT | |
| ENST00000549690.1:c.*228_*229insTTTTTTTTTTTTTTT | ENSP00000449898.1:n.*228_*229insTTTTTTTTTTTTTTT | |
| NM_000239.2:c.*274_*275insTTTTTTTTTTTTTTT , LRG_768t1:c.*274_*275insTTTTTTTTTTTTTTT | NP_000230.1:n.*274_*275insTTTTTTTTTTTTTTT | |
| NM_000239.3:c.*274_*275insTTTTTTTTTTTTTTT MANE Select | NP_000230.1:n.*274_*275insTTTTTTTTTTTTTTT |