Linked Data
dbSNP Id:
rs1818625197
gnomAD v3:
7-87583966-TATAGGAACTA-T
gnomAD v4:
7-87583966-TATAGGAACTA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87583969_87583978del , CM000669.2:g.87583969_87583978del | GRCh38 |
| NC_000007.13:g.87213285_87213294del , CM000669.1:g.87213285_87213294del | GRCh37 |
| NC_000007.12:g.87051221_87051230del | NCBI36 |
| NG_011513.1:g.134273_134282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265724.8:c.286+1536_286+1545del | ENSP00000265724.3:n.286+1536_286+1545del | |
| ENST00000622132.5:c.286+1536_286+1545del MANE Select | ENSP00000478255.1:n.286+1536_286+1545del | |
| ENST00000265724.7:c.286+1536_286+1545del | ENSP00000265724.3:n.286+1536_286+1545del | |
| ENST00000543898.5:c.286+1536_286+1545del | ENSP00000444095.1:n.286+1536_286+1545del | |
| ENST00000622132.4:c.286+1536_286+1545del | ENSP00000478255.1:n.286+1536_286+1545del | |
| NM_000927.4:c.286+1536_286+1545del | NP_000918.2:n.286+1536_286+1545del | |
| NM_001348944.1:c.286+1536_286+1545del | NP_001335873.1:n.286+1536_286+1545del | |
| NM_001348945.1:c.496+1536_496+1545del | NP_001335874.1:n.496+1536_496+1545del | |
| NM_001348946.1:c.286+1536_286+1545del | NP_001335875.1:n.286+1536_286+1545del | |
| NM_001348946.2:c.286+1536_286+1545del MANE Select | NP_001335875.1:n.286+1536_286+1545del | |
| NM_000927.5:c.286+1536_286+1545del | NP_000918.2:n.286+1536_286+1545del | |
| NM_001348944.2:c.286+1536_286+1545del | NP_001335873.1:n.286+1536_286+1545del | |
| NM_001348945.2:c.496+1536_496+1545del | NP_001335874.1:n.496+1536_496+1545del |