Linked Data
dbSNP Id:
rs1907438809
gnomAD v3:
17-41584054-TCTCTCTCTCTCTC-T
gnomAD v4:
17-41584054-TCTCTCTCTCTCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584055_41584067del , CM000679.2:g.41584055_41584067del | GRCh38 |
| NC_000017.10:g.39740307_39740319del , CM000679.1:g.39740307_39740319del | GRCh37 |
| NC_000017.9:g.36993833_36993845del | NCBI36 |
| NG_008624.1:g.7829_7841del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-146_766-134del MANE Select | ENSP00000167586.6:n.766-146_766-134del | |
| ENST00000167586.6:c.766-146_766-134del | ENSP00000167586.6:n.766-146_766-134del | |
| ENST00000476662.1:n.216-146_216-134del | ||
| NM_000526.4:c.766-146_766-134del | NP_000517.2:n.766-146_766-134del | |
| NM_000526.5:c.766-146_766-134del MANE Select | NP_000517.3:n.766-146_766-134del |