Linked Data
dbSNP Id:
rs1672082418
gnomAD v3:
2-10447842-CGGGGCCGCA-C
gnomAD v4:
2-10447842-CGGGGCCGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.10447846_10447854del , CM000664.2:g.10447846_10447854del | GRCh38 |
| NC_000002.11:g.10587972_10587980del , CM000664.1:g.10587972_10587980del | GRCh37 |
| NC_000002.10:g.10505423_10505431del | NCBI36 |
| NG_012105.1:g.5477_5485del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000443218.2:c.-351_-343del | ENSP00000390691.2:n.-351_-343del | |
| ENST00000446285.6:c.-128+270_-128+278del | ENSP00000514632.1:n.-128+270_-128+278del | |
| ENST00000699835.1:c.-795_-787del | ENSP00000514633.1:n.-795_-787del | |
| ENST00000699836.1:c.-18+270_-18+278del | ENSP00000514634.1:n.-18+270_-18+278del | |
| ENST00000234111.9:c.-128+270_-128+278del MANE Select | ENSP00000234111.4:n.-128+270_-128+278del | |
| ENST00000234111.8:c.-128+270_-128+278del | ENSP00000234111.4:n.-128+270_-128+278del | |
| ENST00000446285.5:n.189+270_189+278del | ||
| NM_001287188.1:c.-415+270_-415+278del | NP_001274117.1:n.-415+270_-415+278del | |
| NM_002539.2:c.-128+270_-128+278del | NP_002530.1:n.-128+270_-128+278del | |
| NM_002539.3:c.-128+270_-128+278del MANE Select | NP_002530.1:n.-128+270_-128+278del | |
| NM_001287188.2:c.-415+270_-415+278del | NP_001274117.1:n.-415+270_-415+278del | |
| NM_001287189.2:c.-505_-497del | NP_001274118.1:n.-505_-497del | |
| NM_001287190.2:c.-351_-343del | NP_001274119.1:n.-351_-343del |