Linked Data
gnomAD v4:
15-48410858-ATAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48410860_48410862del , CM000677.2:g.48410860_48410862del | GRCh38 |
| NC_000015.9:g.48703057_48703059del , CM000677.1:g.48703057_48703059del | GRCh37 |
| NC_000015.8:g.46490349_46490351del | NCBI36 |
| NG_008805.2:g.239928_239930del , LRG_778:g.239928_239930del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.*1553_*1555del | ENSP00000453958.2:n.*1553_*1555del | |
| ENST00000682158.1:n.2126_2128del | ||
| ENST00000682170.1:n.2926_2928del | ||
| ENST00000682767.1:n.2042_2044del | ||
| ENST00000316623.10:c.*129_*131del MANE Select | ENSP00000325527.5:n.*129_*131del | |
| ENST00000316623.9:c.*129_*131del | ENSP00000325527.5:n.*129_*131del | |
| ENST00000559133.5:c.4114_4116del | ||
| NM_000138.4:c.*129_*131del , LRG_778t1:c.*129_*131del | NP_000129.3:n.*129_*131del | |
| NM_000138.5:c.*129_*131del MANE Select | NP_000129.3:n.*129_*131del |