Linked Data
gnomAD v4:
5-1213360-C-CCCGCCCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213362_1213363insGCCCATCC , CM000667.2:g.1213362_1213363insGCCCATCC | GRCh38 |
| NC_000005.9:g.1213477_1213478insGCCCATCC , CM000667.1:g.1213477_1213478insGCCCATCC | GRCh37 |
| NC_000005.8:g.1266477_1266478insGCCCATCC | NCBI36 |
| NG_008282.1:g.16768_16769insGCCCATCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.664-101_664-100insGCCCATCC MANE Select | ENSP00000305302.10:n.664-101_664-100insGCCCATCC | |
| ENST00000304460.10:c.664-101_664-100insGCCCATCC | ENSP00000305302.10:n.664-101_664-100insGCCCATCC | |
| ENST00000515652.5:c.572-101_572-100insGCCCATCC | ENSP00000425701.1:n.572-101_572-100insGCCCATCC | |
| NM_001003841.2:c.664-101_664-100insGCCCATCC | NP_001003841.1:n.664-101_664-100insGCCCATCC | |
| NM_001003841.3:c.664-101_664-100insGCCCATCC MANE Select | NP_001003841.1:n.664-101_664-100insGCCCATCC |