Linked Data
gnomAD v4:
10-94942670-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942671dup , CM000672.2:g.94942671dup | GRCh38 |
| NC_000010.10:g.96702428dup , CM000672.1:g.96702428dup | GRCh37 |
| NC_000010.9:g.96692418dup | NCBI36 |
| NG_008385.1:g.9014dup | |
| NG_008385.2:g.9514dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.481+330dup MANE Select | ENSP00000260682.6:n.481+330dup | |
| ENST00000643112.1:c.481+330dup | ENSP00000496202.1:n.481+330dup | |
| ENST00000645207.1:n.634+330dup | ||
| ENST00000260682.6:c.481+330dup | ENSP00000260682.6:n.481+330dup | |
| ENST00000461906.1:n.836dup | ||
| ENST00000473496.1:n.252+330dup | ||
| NM_000771.3:c.481+330dup | NP_000762.2:n.481+330dup | |
| NM_000771.4:c.481+330dup MANE Select | NP_000762.2:n.481+330dup |