Linked Data
dbSNP Id:
rs1907384261
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583048del , CM000679.2:g.41583048del | GRCh38 |
| NC_000017.10:g.39739300del , CM000679.1:g.39739300del | GRCh37 |
| NC_000017.9:g.36992826del | NCBI36 |
| NG_008624.1:g.8848del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.1321+46del MANE Select | ENSP00000167586.6:n.1321+46del | |
| ENST00000167586.6:c.1321+46del | ENSP00000167586.6:n.1321+46del | |
| ENST00000441550.2:n.314del | ||
| NM_000526.4:c.1321+46del | NP_000517.2:n.1321+46del | |
| NM_000526.5:c.1321+46del MANE Select | NP_000517.3:n.1321+46del |