Linked Data
gnomAD v4:
5-1213378-C-CCCCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213378_1213379insCCCA , CM000667.2:g.1213378_1213379insCCCA | GRCh38 |
| NC_000005.9:g.1213493_1213494insCCCA , CM000667.1:g.1213493_1213494insCCCA | GRCh37 |
| NC_000005.8:g.1266493_1266494insCCCA | NCBI36 |
| NG_008282.1:g.16784_16785insCCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-85_664-84insCCCA MANE Select | ENSP00000305302.10:n.664-85_664-84insCCCA | |
| ENST00000304460.10:c.664-85_664-84insCCCA | ENSP00000305302.10:n.664-85_664-84insCCCA | |
| ENST00000515652.5:c.572-85_572-84insCCCA | ENSP00000425701.1:n.572-85_572-84insCCCA | |
| NM_001003841.2:c.664-85_664-84insCCCA | NP_001003841.1:n.664-85_664-84insCCCA | |
| NM_001003841.3:c.664-85_664-84insCCCA MANE Select | NP_001003841.1:n.664-85_664-84insCCCA |