Linked Data
gnomAD v3:
10-122508604-CCTGCCGGTAAAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.122508607_122508618del , CM000672.2:g.122508607_122508618del | GRCh38 |
| NC_000010.10:g.124268123_124268134del , CM000672.1:g.124268123_124268134del | GRCh37 |
| NC_000010.9:g.124258113_124258124del | NCBI36 |
| NG_011554.1:g.52083_52094del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368984.8:c.1006-49_1006-38del MANE Select | ENSP00000357980.3:n.1006-49_1006-38del | |
| ENST00000648167.1:c.688-49_688-38del | ENSP00000498033.1:n.688-49_688-38del | |
| ENST00000368984.7:c.1006-49_1006-38del | ENSP00000357980.3:n.1006-49_1006-38del | |
| ENST00000420892.1:c.229-49_229-38del | ENSP00000412676.1:n.229-49_229-38del | |
| NM_002775.4:c.1006-49_1006-38del | NP_002766.1:n.1006-49_1006-38del | |
| NM_002775.5:c.1006-49_1006-38del MANE Select | NP_002766.1:n.1006-49_1006-38del |