Linked Data
gnomAD v3:
7-87530838-C-CAAGAAAGCAAGAAAGCAAGAAAGCAAGA
gnomAD v4:
7-87530838-C-CAAGAAAGCAAGAAAGCAAGAAAGCAAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530845_87530846insCAAGAAAGCAAGAAAGCAAGAAAGAAAG , CM000669.2:g.87530845_87530846insCAAGAAAGCAAGAAAGCAAGAAAGAAAG | GRCh38 |
| NC_000007.13:g.87160161_87160162insCAAGAAAGCAAGAAAGCAAGAAAGAAAG , CM000669.1:g.87160161_87160162insCAAGAAAGCAAGAAAGCAAGAAAGAAAG | GRCh37 |
| NC_000007.12:g.86998097_86998098insCAAGAAAGCAAGAAAGCAAGAAAGAAAG | NCBI36 |
| NG_011513.1:g.187410_187411insTCTTGCTTTCTTGCTTTCTTGCTTTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000265724.3:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTG... | |
| ENST00000622132.5:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT MANE Select | ENSP00000478255.1:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTG... | |
| ENST00000265724.7:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000265724.3:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTG... | |
| ENST00000488737.6:n.327+455_327+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | ||
| ENST00000496821.5:n.313+455_313+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | ||
| ENST00000543898.5:c.2493+455_2493+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000444095.1:n.2493+455_2493+456insTCTTGCTTTCTTGCTTTCTTG... | |
| ENST00000622132.4:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000478255.1:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTG... | |
| NM_000927.4:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_000918.2:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCT... | |
| NM_001348944.1:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_001335873.1:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTT... | |
| NM_001348945.1:c.2895+455_2895+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_001335874.1:n.2895+455_2895+456insTCTTGCTTTCTTGCTTTCTTGCTT... | |
| NM_001348946.1:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_001335875.1:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTT... | |
| NM_001348946.2:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT MANE Select | NP_001335875.1:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTT... | |
| NM_000927.5:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_000918.2:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCT... | |
| NM_001348944.2:c.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_001335873.1:n.2685+455_2685+456insTCTTGCTTTCTTGCTTTCTTGCTT... | |
| NM_001348945.2:c.2895+455_2895+456insTCTTGCTTTCTTGCTTTCTTGCTTTCTT | NP_001335874.1:n.2895+455_2895+456insTCTTGCTTTCTTGCTTTCTTGCTT... |