Linked Data
dbSNP Id:
rs1907438039
gnomAD v3:
17-41584050-AATCTCTCTCTCT-A
gnomAD v4:
17-41584050-AATCTCTCTCTCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41584051_41584062del , CM000679.2:g.41584051_41584062del | GRCh38 |
| NC_000017.10:g.39740303_39740314del , CM000679.1:g.39740303_39740314del | GRCh37 |
| NC_000017.9:g.36993829_36993840del | NCBI36 |
| NG_008624.1:g.7834_7845del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.766-141_766-130del MANE Select | ENSP00000167586.6:n.766-141_766-130del | |
| ENST00000167586.6:c.766-141_766-130del | ENSP00000167586.6:n.766-141_766-130del | |
| ENST00000476662.1:n.216-141_216-130del | ||
| NM_000526.4:c.766-141_766-130del | NP_000517.2:n.766-141_766-130del | |
| NM_000526.5:c.766-141_766-130del MANE Select | NP_000517.3:n.766-141_766-130del |