Linked Data
dbSNP Id:
rs1817057322
gnomAD v3:
7-87551357-TGAGGAGATAGATATGTTAATTAGCTTGC-T
gnomAD v4:
7-87551357-TGAGGAGATAGATATGTTAATTAGCTTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87551358_87551385del , CM000669.2:g.87551358_87551385del | GRCh38 |
| NC_000007.13:g.87180674_87180701del , CM000669.1:g.87180674_87180701del | GRCh37 |
| NC_000007.12:g.87018610_87018637del | NCBI36 |
| NG_011513.1:g.166864_166891del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.1000-547_1000-520del | ENSP00000265724.3:n.1000-547_1000-520del | |
| ENST00000622132.5:c.1000-547_1000-520del MANE Select | ENSP00000478255.1:n.1000-547_1000-520del | |
| ENST00000265724.7:c.1000-547_1000-520del | ENSP00000265724.3:n.1000-547_1000-520del | |
| ENST00000543898.5:c.808-547_808-520del | ENSP00000444095.1:n.808-547_808-520del | |
| ENST00000622132.4:c.1000-547_1000-520del | ENSP00000478255.1:n.1000-547_1000-520del | |
| NM_000927.4:c.1000-547_1000-520del | NP_000918.2:n.1000-547_1000-520del | |
| NM_001348944.1:c.1000-547_1000-520del | NP_001335873.1:n.1000-547_1000-520del | |
| NM_001348945.1:c.1210-547_1210-520del | NP_001335874.1:n.1210-547_1210-520del | |
| NM_001348946.1:c.1000-547_1000-520del | NP_001335875.1:n.1000-547_1000-520del | |
| NM_001348946.2:c.1000-547_1000-520del MANE Select | NP_001335875.1:n.1000-547_1000-520del | |
| NM_000927.5:c.1000-547_1000-520del | NP_000918.2:n.1000-547_1000-520del | |
| NM_001348944.2:c.1000-547_1000-520del | NP_001335873.1:n.1000-547_1000-520del | |
| NM_001348945.2:c.1210-547_1210-520del | NP_001335874.1:n.1210-547_1210-520del |