Linked Data
dbSNP Id:
rs1816019676
gnomAD v3:
7-87530862-AAAGAAAGAAAG-A
gnomAD v4:
7-87530862-AAAGAAAGAAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87530865_87530875del , CM000669.2:g.87530865_87530875del | GRCh38 |
| NC_000007.13:g.87160181_87160191del , CM000669.1:g.87160181_87160191del | GRCh37 |
| NC_000007.12:g.86998117_86998127del | NCBI36 |
| NG_011513.1:g.187376_187386del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.2685+421_2685+431del | ENSP00000265724.3:n.2685+421_2685+431del | |
| ENST00000622132.5:c.2685+421_2685+431del MANE Select | ENSP00000478255.1:n.2685+421_2685+431del | |
| ENST00000265724.7:c.2685+421_2685+431del | ENSP00000265724.3:n.2685+421_2685+431del | |
| ENST00000488737.6:n.327+421_327+431del | ||
| ENST00000496821.5:n.313+421_313+431del | ||
| ENST00000543898.5:c.2493+421_2493+431del | ENSP00000444095.1:n.2493+421_2493+431del | |
| ENST00000622132.4:c.2685+421_2685+431del | ENSP00000478255.1:n.2685+421_2685+431del | |
| NM_000927.4:c.2685+421_2685+431del | NP_000918.2:n.2685+421_2685+431del | |
| NM_001348944.1:c.2685+421_2685+431del | NP_001335873.1:n.2685+421_2685+431del | |
| NM_001348945.1:c.2895+421_2895+431del | NP_001335874.1:n.2895+421_2895+431del | |
| NM_001348946.1:c.2685+421_2685+431del | NP_001335875.1:n.2685+421_2685+431del | |
| NM_001348946.2:c.2685+421_2685+431del MANE Select | NP_001335875.1:n.2685+421_2685+431del | |
| NM_000927.5:c.2685+421_2685+431del | NP_000918.2:n.2685+421_2685+431del | |
| NM_001348944.2:c.2685+421_2685+431del | NP_001335873.1:n.2685+421_2685+431del | |
| NM_001348945.2:c.2895+421_2895+431del | NP_001335874.1:n.2895+421_2895+431del |