Linked Data
dbSNP Id:
rs1412073870
gnomAD v3:
7-87530838-C-CAAGAAAGCAAGAAAGCAAGAAAGAAAGA
gnomAD v4:
7-87530838-C-CAAGAAAGCAAGAAAGCAAGAAAGAAAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530845_87530846insCAAGAAAGCAAGAAAGAAAGAAAGAAAG , CM000669.2:g.87530845_87530846insCAAGAAAGCAAGAAAGAAAGAAAGAAAG | GRCh38 |
| NC_000007.13:g.87160161_87160162insCAAGAAAGCAAGAAAGAAAGAAAGAAAG , CM000669.1:g.87160161_87160162insCAAGAAAGCAAGAAAGAAAGAAAGAAAG | GRCh37 |
| NC_000007.12:g.86998097_86998098insCAAGAAAGCAAGAAAGAAAGAAAGAAAG | NCBI36 |
| NG_011513.1:g.187410_187411insTCTTTCTTTCTTGCTTTCTTGCTTTCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000265724.3:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTG... | |
| ENST00000622132.5:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT MANE Select | ENSP00000478255.1:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTG... | |
| ENST00000265724.7:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000265724.3:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTG... | |
| ENST00000488737.6:n.327+455_327+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | ||
| ENST00000496821.5:n.313+455_313+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | ||
| ENST00000543898.5:c.2493+455_2493+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000444095.1:n.2493+455_2493+456insTCTTTCTTTCTTGCTTTCTTG... | |
| ENST00000622132.4:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | ENSP00000478255.1:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTG... | |
| NM_000927.4:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_000918.2:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCT... | |
| NM_001348944.1:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_001335873.1:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTT... | |
| NM_001348945.1:c.2895+455_2895+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_001335874.1:n.2895+455_2895+456insTCTTTCTTTCTTGCTTTCTTGCTT... | |
| NM_001348946.1:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_001335875.1:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTT... | |
| NM_001348946.2:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT MANE Select | NP_001335875.1:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTT... | |
| NM_000927.5:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_000918.2:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCT... | |
| NM_001348944.2:c.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_001335873.1:n.2685+455_2685+456insTCTTTCTTTCTTGCTTTCTTGCTT... | |
| NM_001348945.2:c.2895+455_2895+456insTCTTTCTTTCTTGCTTTCTTGCTTTCTT | NP_001335874.1:n.2895+455_2895+456insTCTTTCTTTCTTGCTTTCTTGCTT... |