Linked Data
gnomAD v4:
22-43928846-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928849_43928850del , CM000684.2:g.43928849_43928850del | GRCh38 |
| NC_000022.10:g.44324729_44324730del , CM000684.1:g.44324729_44324730del | GRCh37 |
| NC_000022.9:g.42656062_42656063del | NCBI36 |
| NG_008631.1:g.10111_10112del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.446_447del MANE Select | ENSP00000216180.3:p.Pro149LeufsTer22 | |
| ENST00000216180.7:c.446_447del | ENSP00000216180.3:p.Pro149LeufsTer22 | |
| ENST00000406117.6:c.*78_*79del | ENSP00000384668.2:n.*78_*79del | |
| ENST00000423180.2:c.434_435del | ENSP00000397987.2:p.Pro145LeufsTer22 | |
| ENST00000478713.1:n.480_481del | ||
| NM_025225.2:c.446_447del | NP_079501.2:p.Pro149LeufsTer22 | |
| NM_025225.3:c.446_447del MANE Select | NP_079501.2:p.Pro149LeufsTer22 |