Linked Data
gnomAD v4:
19-47003948-A-ACACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47003950_47003951insCCCA , CM000681.2:g.47003950_47003951insCCCA | GRCh38 |
| NC_000019.9:g.47507207_47507208insCCCA , CM000681.1:g.47507207_47507208insCCCA | GRCh37 |
| NC_000019.8:g.52199047_52199048insCCCA | NCBI36 |
| NG_047014.1:g.90384_90385insCCCA | |
| NG_047014.2:g.147954_147955insCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404338.8:c.7762_7763insCCCA | ENSP00000385720.2:n.7762_7763insCCCA | |
| ENST00000672722.1:c.*3262_*3263insCCCA MANE Select | ENSP00000500409.1:n.*3262_*3263insCCCA | |
| ENST00000404338.7:c.7762_7763insCCCA | ENSP00000385720.2:n.7762_7763insCCCA | |
| ENST00000614079.1:c.7339_7340insCCCA | ENSP00000483730.1:n.7339_7340insCCCA | |
| NM_004491.4:c.7762_7763insCCCA | NP_004482.4:n.7762_7763insCCCA | |
| NM_004491.5:c.*3262_*3263insCCCA MANE Select | NP_004482.4:n.*3262_*3263insCCCA |