Linked Data
gnomAD v4:
8-81478559-TACC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81478560_81478562del , CM000670.2:g.81478560_81478562del | GRCh38 |
| NC_000008.10:g.82390795_82390797del , CM000670.1:g.82390795_82390797del | GRCh37 |
| NC_000008.9:g.82553350_82553352del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256104.5:c.*303_*305del MANE Select | ENSP00000256104.4:n.*303_*305del | |
| ENST00000256104.4:c.*303_*305del | ENSP00000256104.4:n.*303_*305del | |
| NM_001442.2:c.*303_*305del | NP_001433.1:n.*303_*305del | |
| XR_001745980.1:n.514+16586_514+16588del | ||
| NM_001442.3:c.*303_*305del MANE Select | NP_001433.1:n.*303_*305del |