Linked Data
gnomAD v4:
12-12717811-AGAGGCGGTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717813_12717821del , CM000674.2:g.12717813_12717821del | GRCh38 |
| NC_000012.11:g.12870747_12870755del , CM000674.1:g.12870747_12870755del | GRCh37 |
| NC_000012.10:g.12762014_12762022del | NCBI36 |
| NG_016341.1:g.5446_5454del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-27_-19del | ENSP00000507272.1:n.-27_-19del | |
| ENST00000682620.1:n.1631-1012_1631-1004del | ||
| ENST00000684771.1:n.585-1012_585-1004del | ||
| ENST00000228872.9:c.-27_-19del MANE Select | ENSP00000228872.4:n.-27_-19del | |
| ENST00000228872.8:c.-27_-19del | ENSP00000228872.4:n.-27_-19del | |
| ENST00000477087.1:n.155-1012_155-1004del | ||
| NM_004064.4:c.-27_-19del | NP_004055.1:n.-27_-19del | |
| NM_004064.5:c.-27_-19del MANE Select | NP_004055.1:n.-27_-19del |