Linked Data
gnomAD v4:
12-120738805-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738806del , CM000674.2:g.120738806del | GRCh38 |
| NC_000012.11:g.121176609del , CM000674.1:g.121176609del | GRCh37 |
| NC_000012.10:g.119660992del | NCBI36 |
| NG_007991.1:g.18039del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.934-14del MANE Select | ENSP00000242592.4:n.934-14del | |
| ENST00000242592.8:c.934-14del | ENSP00000242592.4:n.934-14del | |
| ENST00000411593.2:c.922-14del | ENSP00000401045.2:n.922-14del | |
| NM_000017.3:c.934-14del | NP_000008.1:n.934-14del | |
| NM_001302554.1:c.922-14del | NP_001289483.1:n.922-14del | |
| NM_000017.4:c.934-14del MANE Select | NP_000008.1:n.934-14del | |
| NM_001302554.2:c.922-14del | NP_001289483.1:n.922-14del |