Linked Data
gnomAD v3:
4-121686029-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
gnomAD v4:
4-121686029-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121686044_121686045insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000666.2:g.121686044_121686045insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000004.11:g.122607199_122607200insTTTTTTTTTTTTTTTTTTTTTTTTTTT , CM000666.1:g.122607199_122607200insTTTTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000004.10:g.122826649_122826650insTTTTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
| NG_032042.1:g.15963_15964insAAAAAAAAAAAAAAAAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296511.10:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | ENSP00000296511.5:n.94+258_94+259insAAAAA... | |
| ENST00000296511.9:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000296511.5:n.94+258_94+259insAAAAA... | |
| ENST00000501272.6:c.10-2553_10-2552insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000424106.1:n.10-2553_10-2552insAAA... | |
| ENST00000506395.5:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000421421.1:n.94+258_94+259insAAAAA... | |
| ENST00000509016.5:n.215+258_215+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000511552.5:n.480+258_480+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000513428.5:n.259+258_259+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000513523.1:n.262+258_262+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ||
| ENST00000513728.1:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000427135.1:n.94+258_94+259insAAAAA... | |
| ENST00000515017.5:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | ENSP00000424199.1:n.94+258_94+259insAAAAA... | |
| NM_001154.3:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | NP_001145.1:n.94+258_94+259insAAAAAAAAAAA... | |
| XM_017008141.2:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA | XP_016863630.1:n.94+258_94+259insAAAAAAAA... | |
| NM_001154.4:c.94+258_94+259insAAAAAAAAAAAAAAAAAAAAAAAAAAA MANE Select | NP_001145.1:n.94+258_94+259insAAAAAAAAAAA... |