Linked Data
gnomAD v4:
12-12717833-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717834del , CM000674.2:g.12717834del | GRCh38 |
| NC_000012.11:g.12870768del , CM000674.1:g.12870768del | GRCh37 |
| NC_000012.10:g.12762035del | NCBI36 |
| NG_016341.1:g.5467del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614874.2:c.-6del | ENSP00000507272.1:n.-6del | |
| ENST00000682620.1:n.1631-991del | ||
| ENST00000684771.1:n.585-991del | ||
| ENST00000228872.9:c.-6del MANE Select | ENSP00000228872.4:n.-6del | |
| ENST00000228872.8:c.-6del | ENSP00000228872.4:n.-6del | |
| ENST00000396340.1:c.-6del | ENSP00000379629.1:n.-6del | |
| ENST00000477087.1:n.155-991del | ||
| NM_004064.4:c.-6del | NP_004055.1:n.-6del | |
| NM_004064.5:c.-6del MANE Select | NP_004055.1:n.-6del |