Linked Data
dbSNP Id:
rs1816023470
gnomAD v3:
7-87530878-G-GAAAGAAAGAA
gnomAD v4:
7-87530878-G-GAAAGAAAGAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530885_87530886insGAAAAAGAAA , CM000669.2:g.87530885_87530886insGAAAAAGAAA | GRCh38 |
| NC_000007.13:g.87160201_87160202insGAAAAAGAAA , CM000669.1:g.87160201_87160202insGAAAAAGAAA | GRCh37 |
| NC_000007.12:g.86998137_86998138insGAAAAAGAAA | NCBI36 |
| NG_011513.1:g.187370_187371insTTCTTTCTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+415_2685+416insTTCTTTCTTT | ENSP00000265724.3:n.2685+415_2685+416insTTCTTTCTTT | |
| ENST00000622132.5:c.2685+415_2685+416insTTCTTTCTTT MANE Select | ENSP00000478255.1:n.2685+415_2685+416insTTCTTTCTTT | |
| ENST00000265724.7:c.2685+415_2685+416insTTCTTTCTTT | ENSP00000265724.3:n.2685+415_2685+416insTTCTTTCTTT | |
| ENST00000488737.6:n.327+415_327+416insTTCTTTCTTT | ||
| ENST00000496821.5:n.313+415_313+416insTTCTTTCTTT | ||
| ENST00000543898.5:c.2493+415_2493+416insTTCTTTCTTT | ENSP00000444095.1:n.2493+415_2493+416insTTCTTTCTTT | |
| ENST00000622132.4:c.2685+415_2685+416insTTCTTTCTTT | ENSP00000478255.1:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_000927.4:c.2685+415_2685+416insTTCTTTCTTT | NP_000918.2:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_001348944.1:c.2685+415_2685+416insTTCTTTCTTT | NP_001335873.1:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_001348945.1:c.2895+415_2895+416insTTCTTTCTTT | NP_001335874.1:n.2895+415_2895+416insTTCTTTCTTT | |
| NM_001348946.1:c.2685+415_2685+416insTTCTTTCTTT | NP_001335875.1:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_001348946.2:c.2685+415_2685+416insTTCTTTCTTT MANE Select | NP_001335875.1:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_000927.5:c.2685+415_2685+416insTTCTTTCTTT | NP_000918.2:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_001348944.2:c.2685+415_2685+416insTTCTTTCTTT | NP_001335873.1:n.2685+415_2685+416insTTCTTTCTTT | |
| NM_001348945.2:c.2895+415_2895+416insTTCTTTCTTT | NP_001335874.1:n.2895+415_2895+416insTTCTTTCTTT |