Linked Data
gnomAD v4:
19-47004326-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47004328del , CM000681.2:g.47004328del | GRCh38 |
| NC_000019.9:g.47507585del , CM000681.1:g.47507585del | GRCh37 |
| NC_000019.8:g.52199425del | NCBI36 |
| NG_047014.1:g.90762del | |
| NG_047014.2:g.148332del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.8140del | ENSP00000385720.2:n.8140del | |
| ENST00000672722.1:c.*3640del MANE Select | ENSP00000500409.1:n.*3640del | |
| ENST00000404338.7:c.8140del | ENSP00000385720.2:n.8140del | |
| NM_004491.4:c.8140del | NP_004482.4:n.8140del | |
| NM_004491.5:c.*3640del MANE Select | NP_004482.4:n.*3640del |