Linked Data
gnomAD v4:
16-67436400-CTGGGGGTGGGGTGGGGGTGGGGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436406_67436429del , CM000678.2:g.67436406_67436429del | GRCh38 |
| NC_000016.9:g.67470309_67470332del , CM000678.1:g.67470309_67470332del | GRCh37 |
| NC_000016.8:g.66027810_66027833del | NCBI36 |
| NG_011482.1:g.49763_49786del | |
| NG_016549.1:g.10274_10297del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.802+20_802+43del MANE Select | ENSP00000316786.5:n.802+20_802+43del | |
| ENST00000326152.5:c.802+20_802+43del | ENSP00000316786.5:n.802+20_802+43del | |
| NM_000196.3:c.802+20_802+43del | NP_000187.3:n.802+20_802+43del | |
| NM_000196.4:c.802+20_802+43del MANE Select | NP_000187.3:n.802+20_802+43del |