Linked Data
gnomAD v4:
1-109264385-C-CAACCAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.109264385_109264386insAACCAA , CM000663.2:g.109264385_109264386insAACCAA | GRCh38 |
| NC_000001.10:g.109807007_109807008insAACCAA , CM000663.1:g.109807007_109807008insAACCAA | GRCh37 |
| NC_000001.9:g.109608530_109608531insAACCAA | NCBI36 |
| NG_052669.1:g.19681_19682insAACCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271332.4:c.5289+20_5289+21insAACCAA MANE Select | ENSP00000271332.3:n.5289+20_5289+21insAACCAA | |
| ENST00000271332.3:c.5289+20_5289+21insAACCAA | ENSP00000271332.3:n.5289+20_5289+21insAACCAA | |
| NM_001408.2:c.5289+20_5289+21insAACCAA | NP_001399.1:n.5289+20_5289+21insAACCAA | |
| XM_005270580.3:c.5289+20_5289+21insAACCAA | XP_005270637.1:n.5289+20_5289+21insAACCAA | |
| NM_001408.3:c.5289+20_5289+21insAACCAA MANE Select | NP_001399.1:n.5289+20_5289+21insAACCAA |