Linked Data
gnomAD v4:
19-47003950-A-ACACACAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003950_47003951insCACACAC , CM000681.2:g.47003950_47003951insCACACAC | GRCh38 |
| NC_000019.9:g.47507207_47507208insCACACAC , CM000681.1:g.47507207_47507208insCACACAC | GRCh37 |
| NC_000019.8:g.52199047_52199048insCACACAC | NCBI36 |
| NG_047014.1:g.90384_90385insCACACAC | |
| NG_047014.2:g.147954_147955insCACACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7762_7763insCACACAC | ENSP00000385720.2:n.7762_7763insCACACAC | |
| ENST00000672722.1:c.*3262_*3263insCACACAC MANE Select | ENSP00000500409.1:n.*3262_*3263insCACACAC | |
| ENST00000404338.7:c.7762_7763insCACACAC | ENSP00000385720.2:n.7762_7763insCACACAC | |
| ENST00000614079.1:c.7339_7340insCACACAC | ENSP00000483730.1:n.7339_7340insCACACAC | |
| NM_004491.4:c.7762_7763insCACACAC | NP_004482.4:n.7762_7763insCACACAC | |
| NM_004491.5:c.*3262_*3263insCACACAC MANE Select | NP_004482.4:n.*3262_*3263insCACACAC |